6p22.3CNV Type: Deletion-Duplication
Largest CNV size: 198114 bp
Statistics Box:
Number of Reports: 27
Number of Reports: 27
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Deletion
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
Deletion
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Deletion
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series
Deletion
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
30498
1
0
1
baroy_13_ID/ASD_discovery_cases
Five unrelated patients with variable degree of cognitive impairment ranging from borderline IQ to severe intellectual disability (University of Olso/Olso University Hospital, Norway).
5
Intellectual disability (ID) in four cases (borderline IQ in one case); one case (patient 3) with additional diagnosis of ASD (based on ADOS evaluation).
Range, 4-17 yrs.
40% Male
200000
2
0
2
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
1950
1
0
1
cadieux-dion_22_ASD/SCZ/DD/ID_cases
Individuals with 6p22.3 deletions affecting the JARID2 gene from an initial cohort of seven individuals from five families with pathogenic or likely pathogenic JARID2 variants evaluated at Children's Mercy Hospital (Kansas City, Missouri, USA).
2
Both cases presented with developmental delay (DD); one case also presented with autism spectrum disorder (ASD), schizophrenia (SCZ), and intellectual disability (ID).
Range, 15 mos.-14 yrs.
Male
87824
2
0
2
celestino-soper_12_DD/CHD_discovery_cases
Subjects from databases of Baylor College of Medicine-Medical Genetics Laboratories (MGL) and Signature Genomic Laboratories (SGL) diagnostic laboratories
5
Four patients with developmental delay (DD), one with congenital heart defects (CHD)
Range, 1 mo.-17 yrs.
60.0% Male
5200000
2
0
2
di_benedetto_13_ASD_discovery_cases
First of two siblings born to healthy non-consanguineous parents that was clinically and genetically evaluated by researchers from I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy and University of Catania, Catania, Italy
1
Diagnosis of ASD (according to ADOS-G and ADI-R evaluation) and severe intellectual disability
18 yrs.
Male
1070000
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
99029
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
417297
3
5
8
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
60054
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
568625
0
2
2
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
68911
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
65034
0
1
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
83000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
98306
0
1
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
49789
2
0
2
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
198114
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
72100
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
246000
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
125821
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
403080
3
2
5
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
38432
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
96455
11
6
17
spataro_23_ASD/DD/ID_discovery_cases
Individuals from the Clinical Genetics Unit at Parc Tauli Hospital Universitari (Sabadell, Spain) between March 2019 and December 2021.
398
Cases had a clinical diagnosis of autism spectrum disorder (ASD) or global developmental delay/intellectual disability (DD/ID).
Average age, 14.5 +/- 11.2 yrs.
62.06% Male
105775
1
0
1
verberne_20_DD/ID_discovery_cases
Individuals with 6p22.3 deletions affecting the JARID2 gene
8
All patients presented with developmental delay and intellectual disability/learning difficulties; 4 cases presented with autistic features
Range, 3 yrs. 6 mos.-38 yrs.
62.50% Male
324962
7
0
7
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
31046
1
0
1
verberne_22_DD_discovery_cases
A mother-daughter pair with a deletion affecting the JARID2 gene from an initial cohort of 4 previously unreported individuals with JARID2 variants.
2
Both individuals presented with developmental delay (DD).
Range, 6-36 yrs.
Female
78322
2
0
2
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
36000
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
207980
5
1
6
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
17230
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
461756
0
3
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
147306
1
1
2
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
21357
1
1
2
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
403080
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
488267
8
7
15
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
baroy_13_ID/ASD_discovery_cases
Norwegian (n=3), Norwegian/English (n=1), Lebanese (n=1)
aCGH
Agilent 4x44K, 2x105A, 4x180K or 244A
Feature Extraction, DNA Analytics v4.0.76
qPCR, aCGH
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
cadieux-dion_22_ASD/SCZ/DD/ID_cases
United States
Array SNP
Affymetrix Cytoscan
NA
NA
None
celestino-soper_12_DD/CHD_discovery_cases
NA
aCGH
Agilent OLIGO custom clinical microarrays versions 7.4 OLIGO, 6.3 OLIGO, 6.4 OLIGO, 8.0 OLIGO, Agilent 105 K-feature SignatureChip Oligo Solution whole-genome custom microarray
FISH
di_benedetto_13_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 180K Microarray
Feature Extraction v10.7, Agilent Genomic Workbench Lite Edition 6.5
Microsatellite analysis
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
spataro_23_ASD/DD/ID_discovery_cases
Spain
WES
Illumina NovaSeq 6000
NA
XHMM, ExomeDepth
MLPA or aCGH
verberne_20_DD/ID_discovery_cases
aCGH, array SNP, solid phase hybridization
Affymetrix CytoScan HD, Agilent 105K, Agilent 180K, Illumina CytoSNP-850k, Illumina HumanCytoSNP-12, Illumina Infinium Global Screening Array-24, OGT 180K
None
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
verberne_22_DD_discovery_cases
NA
NA
NA
NA
NA
None
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_23_ASD/ADHD/DD/ID_discovery_cases-case33
5.42 yrs.
F
Regression of speech, can not walk spontaneously, low response, distal arthrogryposis type 1 (skeletal abnormality, feet, hand anthrogryposes), restlessness, anorexia.. Growth parameters: height 1.01 m, weight 16 kg, head circumference 50 cm. Family history: born to consanguineous parents.
15222284
15252781
30498
GRCh38
Deletion
No
baroy_13_ID/ASD_discovery_cases-patient4
6.5 yrs.
M
Intellectual disability
Birth/neonatal history: uneventful pregnancy and delivery, all birth measures (weight, length, OFC) at 50th %ile; neonatal hypotonia. Developmental milestones: walked at 16 months. Language and communication evaluation: testing with Reynell Developmental Language Scales at age of 4 years 3 months revealed that language development was delayed by 1.5 years. Motor and musculoskeletal evaluation: balance and coordination problems, inadequate finger opposition, poor performance when asked to stand on one leg at a time, jump, or walk on his toes or heels; normal muscle tone. Behavioral/psychiatric evaluation: normal. Epilepsy/seizures: none (normal EEG). Brain imaging: normal brain MRI. Dysmorphic features: prominent supraorbital ridges, deep set eyes, strabismus, infraorbital dark circles, midface hypoplasia, deep set nasal root, bulbous nasal tip, short philtrum, full lips, marked Cupid's bow, accentuated central depression in lower lip, prominent or pointed chin, clinodactyly 5th fingers, syndactyly 2-3 toes, sandal gap, broad halluxes. Growth parameters: weight of 23.9 kg (50th %ile), height of 126 cm (75ht %ile), and OFC of 52 cm (25th %ile) at 6.5 years of age. Family history: second of four children of non-consanguineous Lebanese parents; mother and maternal uncle with epilepsy.
Borderline intellectual functioning (IQ 70-84) (based on testing with WPPSI-III at age 6.5 years, which gave a borderline IQ score of 74)
15405146
15594714
189569
GRCh38
Deletion
Yes
baroy_13_ID/ASD_discovery_cases-patient5
17 yrs.
F
Intellectual disability
Birth/neonatal history: pregnancy complicated by episodes of maternal bleeding, normal delivery, birth weight and length both at 75th %ile (OFC unknown). Developmental milestones: independent walking at 14 months, developed stereotypic habit ot constantly walking around; delayed language and motor development at 3 years and 3 months. Language and communication evaluation: delayed language development. Motor and musculoskeletal evaluation: mild unsteadiness when standing with eyes closed; normal muscle tone. Behavioral/psychiatric evaluation: lack of concentration and impulse control, hyperactivity, episodes of aggression and violent behavior, episdoes of stereotypic and repetitive behavior (not considered to have ASD), psychotic episode at age of 14 years. Dysmorphic features: not noted. Growth parameters: obsese with MBI of 30.6 and height of 162.5 cm (25th %ile). Family history: second of three children of non-consanguineous Norwegian parents; mother had Sjogren syndrome.
Mild intellectual disability (IQ 50-69) [based on recent testing with WISC-IV (which gave IQ score slightly below 70), Weschler Adult Intelligence Scale-4th edition (WAIS-IV) and other tests]; testing with Bayley-II at age of 3 years 3 months gave Mental Developmental Index of 55 (corresponded to developmental age of ~2 years).
16215572
16332066
116495
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC12346
N/A
M
ASD
Case from SSC_phase1 cohort
17651235
17653185
1951
GRCh38
Deletion
Yes
cadieux-dion_22_ASD/SCZ/DD/ID_cases-caseFam4-p6
15 mos.
M
Developmental delay
Birth/neonatal history: neonatal hypoglycemia, neonatal jaundice. Developmental milestones: speech delay, motor delay. Motor and musculoskeletal evaluation: bilateral clubfeet. Additional medical history: hearing loss (mild high frequency hearing loss in the right ear, borderline-normal in the left), bilateral clubfeet, umbilical hernia, hyperopia, pseudostrabismus, astigmatism. Dysmorphic features: high palate, retrognathia, broad forehead with high anterior hairline, upslanting palpebral fissures, infraorbital dark circles, depressed nasal bridge, anteverted nares, long and deep philtrum, low-set and posteriorly rotated ears. Growth parameters: slow weight gain.
15385221
15473044
87824
GRCh38
Deletion
No
cadieux-dion_22_ASD/SCZ/DD/ID_cases-caseFam5-p7
14 yrs.
M
ASD, schizophrenia, developmental delay, and intellectual disability
Developmental milestones: mild global developmental delay, developmental regression. Motor and musculoskeletal evaluation: tics, gait disturbance. Behavioral/psychiatric evaluation: autism, stereotypic behavior, aggressive behavior, mutism, schizophrenia. Additional medical history: anisometropia, bradykinesia, exotropia, atrial septal defect with right atrial and left ventricular enlargement.
Intellectual disability
15358518
15419430
60913
GRCh38
Deletion
No
celestino-soper_12_DD/CHD_discovery_cases-patient2
4 yrs.
M
Developmental delay (DD)
Developmental and speech delay, repetitive movements, hyperactivity, and possible ASDs; however, no formal ASDs testing was performed. Metabolic studies did not reveal any abnormalities. Cardiac evaluation: observed 2/6 systolic murmur. Dysmorphic features: none. Family history: mother and the older brother of this patient are reportedly mentally disabled; DNA from the probands older brother NA.
Developmental delay (DD)
16572136
17542968
970833
GRCh38
Deletion
Yes
celestino-soper_12_DD/CHD_discovery_cases-patient5
7 yrs.
F
Developmental delay (DD)
Birth/neonatal history: uncomplicated pregnancy, induced vaginal delivery. Developmental and speech delay. Epilepsy/seizures: three generalized seizures without fever at four months. EEG: normal. Brain imaging: MRI and CT normal. Other medical concerns and comorbidites: bilateral strabismus (corrected at four years of age); ongoing iron deficiency, for which she was being treated. Dymsorphic features: none. Family history: healthy parents; healthy older two full sisters and half sister.
Developmental delay (DD)
16186160
21421474
5235315
GRCh38
Deletion
Yes
di_benedetto_13_ASD_discovery_cases-case1
18 yrs.
M
ASD and ID
Diagnosis of ASD (according to ADOS-G and ADI-R evaluation during neurological examination at age of 3 yrs. 9 mos.). Birth/neonatal history: pregnancy characterized by weak fetal movements; born at term by induced vaginal delivery; birth weight >97th %ile; showed physiological jaundice (treated with phototherapy); dacryocystitis by lacrimal duct stenosis, bilateral hydrocele, umbilical hernia and left lateral xiphoid epigastric hernia also observed. Developmental milestones: delayed psychomotor development (walked at 15 months, later showed autonomous deambulations with awkward movements); delayed speech. Motor and musculoskeletal evaluation: diffuse ligament laxity and muscular hypotonia observed at 3 yrs. 9 mos.; normal deep tendon reflexes, shifting with age to hyporeflexia, esp. at lower limbs, when observed at 12 yrs. 7 mos.; poor fine motor skills and general coordination; broad-based gait with clampsy movements. Behavioral/psychiatric evaluation: typical autistic traits (impairments in environmental and social interactions, avoidance of spontaneous or requested eye contacts, very limited verbal and non-verbal communication, limited interests, & repetitive behaviors with frequent hand-flapping, head and trunk rocking); hyperactivity, behavioral problems including self-injury (head banging) and, less frequently, aggressiveness towards others. EEG: paroxysmal discharges, wuch as spikes and spike-and-wave complexes, isolated or in short sequences that occurred in the central & temporal regions of both hemispheres, significantly activated during sleep. EMG: increased number of polyphasic low-amplitude potentials. Brain imaging: MRI performed at 4 years 6 months revealed mild abnormalities in posterior periventricular white matter and enlarged sulci and ventricles. Sleep disturbances: case suffered from sleep disorders. Dysmorphic features: long face, drooling, epicanthic folds, macrosomia, central obesity, large testes, knock knees, bilateral valgus flat feet. Growth parameters: head circumference, height, and weight >97th %ile. Family history: first of two siblings born to healthy non-consanguineous parents.
Severe intellectual disability (ascertained during neurological examination at age of 3 years 9 months)
15289769
16359769
1070001
GRCh38
Deletion
Yes
egger_14_ASD_discovery_cases-caseA196
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
17655414
17754442
99029
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18097_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20703721
20829541
125821
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3146_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17381586
17446292
64707
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4257_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17527919
17847629
319711
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4272_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21729451
21811944
82494
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5246_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18698911
19116208
417298
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5291_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20167391
20198614
31224
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6035_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22330232
22371265
41034
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8617_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
20652534
20703721
51188
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU023604
Autism
19078656
19138709
60054
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000838
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
17397932
17966557
568626
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004892
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16447921
16825336
377416
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12758.p1
N/A
M
ASD
ASD proband from SSC quad family 12758. SRS score of 80.
Full-scale IQ (FSIQ) score of 74.
24454014
24522925
68912
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13876.p1
N/A
M
ASD
ASD proband from SSC quad family 13876. SRS score of 82.
Full-scale IQ (FSIQ) score of 40.
20781144
20846178
65035
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case13876.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
20781144
20846178
65035
GRCh38
Duplication
Yes
lesca_12_EP_discovery_cases-case13-19
NA
M
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: Awakening, CSSG. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Normal. Cognitive regression: No. Verbal IQ 110, performance IQ 109 (at 7 years of age)
23272417
23355757
83341
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11505.p1
NA
M
ASD
NA
NA
21800531
21898836
98306
GRCh38
Duplication
No
lintas_17_ASD_discovery_cases-case17.2
N/A
N/A
PDD-NOS
No additional clinical information available
15280929
15330718
49790
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case17.3
N/A
N/A
PDD-NOS
No additional clinical information available
15280929
15330718
49790
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-MM0212-004
NA
F
ASD
NA
NA
17396885
17594998
198114
GRCh38
Duplication
Yes
mosca_16_DCD_discovery_cases-case105503
N/A
F
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
23704023
23776122
72100
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam1252Proband11045
N/A
M
ASD
Additional clinical profile info N/A
ID
17386664
17632830
246167
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case18097_301
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
20703721
20829541
125821
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case117372L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
21585450
21622286
36837
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case137573L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16340339
16350516
10178
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case55634
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
20275536
20306779
31244
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case61384
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
17653157
17694301
41145
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case84823
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
18807316
19210395
403080
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-342
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
19812213
19850644
38432
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
19227010
19245067
18058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11131.p1
7.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
18099363
18119246
19884
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
15810074
15827798
17725
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11256.p1
11.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 127; verbal IQ, 98
16391697
16399859
8163
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11397.p1
11.2
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 120
21824163
21836404
12242
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
21799138
21895593
96456
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11600.p1
14.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 112; verbal IQ, 99
17170098
17176915
6818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12014.p1
6.3
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
21826873
21833828
6956
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12108.p1
13.9
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 63; verbal IQ, 74
19490675
19494515
3841
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12232.p1
7.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 74; verbal IQ, 51
17154449
17176915
22467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12287.p1
7.9
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
19587273
19601352
14080
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12301.p1
13.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
16391697
16399859
8163
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12312.p1
5.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
17231188
17252111
20924
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12664.p1
11.4
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
21824163
21837019
12857
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12690.p1
11.6
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
22320899
22330232
9334
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12708.p1
10.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
16391697
16399859
8163
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
21826873
21833828
6956
GRCh38
Deletion
No
spataro_23_ASD/DD/ID_discovery_cases-case60
15.8 yrs.
M
Developmental delay and intellectual disability
Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: pes planus, hypotonia. Behavioral/psychiatric evaluation: short attention span. Dysmorphic features: abnormal facial shape.
Mild intellectual disability, dyslexia
15487307
15593081
105775
GRCh38
Deletion
Yes
verberne_20_DD/ID_discovery_cases-case1
17 yrs.
F
Developmental delay, intellectual disability, and autistic features
Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: autistic features. Dysmorphic features: high anterior hairline, deep-set eyes, infraorbital dark circles, depressed nasal bridge, bulbous nasal tip, short philtrum, full lips, fetal finger pads, tapering of the 2nd and 5th digits, thick eyebrows, buffalo hump, central obesity, acanthosis nigricans (neck and axillae), excess hair growth (back, arm, leg), and multiple urinary tract infections (patient 1 in this report).
Mild intellectual disability (IQ 50)
15374161
15405205
31045
GRCh38
Deletion
No
verberne_20_DD/ID_discovery_cases-case2
19 yrs.
F
Developmental delay and intellectual disability
Developmental milestones: speech delay. Behavioral/psychiatric evaluation: psychotic episodes. Additional medical history: frequent middle ear infections (four grommet insertions), adenotonsillectomy. Dysmorphic features: high anterior hairline, deep-set eyes, midface hypoplasia, short philtrum, bifid uvula, submucous cleft palate. Growth parameters: tall stature (height +2.3 SD at 7 years of age).
Borderline intellectual disability (IQ 82)
15330658
15419025
88368
GRCh38
Deletion
No
verberne_20_DD/ID_discovery_cases-case3
9 yrs.
M
Developmental delay, intellectual disability, and autistic features
Birth/neonatal history: neonatal hyperbilirubinemia, neonatal feeding problems. Developmental milestones: developmental delay, severe speech delay. Motor and musculoskeletal evaluation: pes planus. Behavioral/psychiatric evaluation: autistic features, sleep disturbance (wakes up often during sleep). Additional medical history: mild hyperopia. Dysmorphic features: broad forehead, infraorbital dark circles, prominent forehead, triangular face, marked cupid's bow. Growth parameters: increased body weight (+2.06 SD at 9 years of age).
Mild intellectual disability (IQ 61-74 by WPPSY at 4 years)
15291413
15388117
96705
GRCh38
Deletion
No
verberne_20_DD/ID_discovery_cases-case4
3 yrs. 6 mos.
M
Developmental delay, intellectual disability, and autistic features
Birth/neonatal history: pregnancy complicated by maternal diabetes, neonatal hyperbilirubinemia. Developmental milestones: developmental delay, motor delay, severe speech delay. Motor and musculoskeletal evaluation: hypotonia, joint hyperlaxity, subluxation of the thumbs. Behavioral/psychiatric evaluation: autistic features, stereotypic movements. Additional medical history: unilateral cryptorchidism, umbilical hernia. Dysmorphic features: high anterior hairline, depressed nasal bridge, full lips, mild frontal bossing, broad nasal bridge, upslanted palpebral fissures, epicanthus, low-set ears.
Borderline intellectual disability (tIQ 70, pIQ 72)
15298370
15417004
118635
GRCh38
Deletion
No
verberne_20_DD/ID_discovery_cases-case5
7 yrs.
F
Developmental delay and intellectual disability
Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: clumsiness, frequent falls (until 6 years). Additional medical history: resolved hear murmur, a patch of prominent capillaries on the upper back, sleep apnea (resolved at 2 years). Dysmorphic features: broad forehead, high anterior hairline, prominent supraorbital ridges, deep-set eyes, infraorbital dark circles, midface hypoplasia, depressed nasal bridge, bulbous nasal tip, pes planus, sparse eyebrows, hypotelorism, deep philtrum, prominent cupid's bow, pointed chin, right accessory nipples, irregularly spaced teeth, prominent upper central incisors, an inability to establish overbite. Growth parameters: tall stature (height +2.19 SD at 7 years of age). Family history: deletion transmitted from a similarly affected father; her healthy brother did not have the deletion.
Mild intellectual disability
15334558
15478993
144436
GRCh38
Deletion
No
verberne_20_DD/ID_discovery_cases-case6
38 yrs.
M
Developmental delay, intellectual disability, and seizures
Birth/neonatal history: pregnancy complicated by placental insufficiency and maternal alcohol use. Developmental milestones: developmental delay. Language and communication evaluation: severe stutter. Epilepsy/seizures: seizures until 3 years of age. Additional medical history: testicular abscess, kidney infection at a young age. Dysmorphic features: broad forehead, high anterior hairline, prominent supraorbital ridges, deep-set eyes, infraorbital dark circles, midface hypoplasia, depressed nasal bridge, bulbous nasal tip, sparse eyebrows, prominent and pointed chin. Family history: similarly affected daughter who also has the JARID2 deletion.
Mild-moderate intellectual disability
15346486
15481031
134546
GRCh38
Deletion
No
verberne_20_DD/ID_discovery_cases-case8
10 yrs.
M
Developmental delay and learning difficulties
Developmental milestones: mild developmental delay, motor delay, receptive language delay. Motor and musculoskeletal evaluation: dyspraxia, developmental coordination disorder, hip joint hyperlaxity, shoulder subluxation. Dysmorphic features: hypodontia.
Learning difficulties (reduced working memory and processing speed)
15222284
15547245
324962
GRCh38
Deletion
No
verberne_22_ASD/DD/ID_discovery_cases-case122
NA
F
Intellectual disability
Facial dysmorphism
Intellectual disability
15374160
15405205
31046
GRCh38
Deletion
No
verberne_22_DD_discovery_cases-case6
6 yrs.
F
Developmental delay
Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: gait disturbance (previously had a rigid walking pattern). Dysmorphic features: high anterior hairline, infraorbital dark circles, bulbous nasal tip, supernumerary tooth. Family history: similarly affected mother.
Normal intellectual functioning.
15383485
15461806
78322
GRCh38
Deletion
No
verberne_22_DD_discovery_cases-case7
36 yrs.
F
Developmental delay
Developmental milestones: developmental delay. Dysmorphic featues: bulbous nasal tip. Family history: similarly affected daughter.
Learning difficulties; IQ not available.
15383485
15461806
78322
GRCh38
Deletion
No
zhou_19_ASD_discovery_cases-caseAU052603
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
15451956
15487592
35637
GRCh38
Duplication
Yes
zhou_19_ASD_discovery_cases-caseAU052703
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
15451956
15487592
35637
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB279093_0067942606
N/A
N/A
Control
No previous psychiatric history
20167391
20198614
31224
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB431870_1007874682
N/A
N/A
Control
No previous psychiatric history
18133890
18235545
101656
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB647111_1007846512
N/A
N/A
Control
No previous psychiatric history
20703721
20829541
125821
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB782197_1007875255
N/A
N/A
Control
No previous psychiatric history
16349913
16557893
207981
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB962764_1007843925
N/A
N/A
Control
No previous psychiatric history
22421736
22475979
54244
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900066_900066
N/A
N/A
Control
No previous psychiatric history
20186529
20236812
50284
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1803
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
23631118
23648347
17230
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control12033.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17764109
18171479
407371
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12033.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
20739518
21201274
461757
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14127.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
20955418
21000372
44955
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11505.s1
NA
F
Control
NA
NA
21800531
21898836
98306
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12314.s1
NA
M
Control
NA
NA
22272914
22420219
147306
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27079
Control
15867666
15882017
14352
Unknown
Deletion
nord_11_ASD_discovery_controls-04C27934
Control
16704006
16725362
21357
Unknown
Duplication
sanders_11_ASD_discovery_controls-11124.s1
13.3
M
Control (matched sibling)
NA
NA
17647415
17895804
248390
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
16391697
16399859
8163
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11265.s1
0
F
Control (matched sibling)
NA
NA
21826873
21833828
6956
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
21799138
21895593
96456
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11895.s1
4
M
Control (matched sibling)
NA
NA
16837775
16885453
47679
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
17738759
18173287
434529
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
20716890
21205157
488268
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12185.s1
4.9
F
Control (matched sibling)
NA
NA
22556025
22563980
7956
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12303.s1
5.8
F
Control (matched sibling)
NA
NA
20069996
20072545
2550
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12314.s1
8.2
M
Control (matched sibling)
NA
NA
22279985
22418953
138969
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12444.s1
7
M
Control (matched sibling)
NA
NA
21826873
21836404
9532
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12667.s1
19.3
M
Control (matched sibling)
NA
NA
16391697
16399859
8163
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12715.s1
4.2
F
Control (matched sibling)
NA
NA
19046499
19051464
4966
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12997.s1
5.7
F
Control (matched sibling)
NA
NA
19772281
19792023
19743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13327.s1
10.3
F
Control (matched sibling)
NA
NA
22556025
22563980
7956
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case33
Unknown
JARID2,JARID2-AS1,JARID2-DT
baroy_13_ID/ASD_discovery_cases-patient4
qPCR
De novo
Likely simplex
Possibly segregated
JARID2,DTNBP1
baroy_13_ID/ASD_discovery_cases-patient5
aCGH
De novo
Likely simplex
Possibly segregated
GMPR,ATXN1
brandler_18_ASD_discovery_cases-caseSSC12346
PCR or SNP data validation
Maternal
NUP153
cadieux-dion_22_ASD/SCZ/DD/ID_cases-caseFam4-p6
De novo
JARID2
cadieux-dion_22_ASD/SCZ/DD/ID_cases-caseFam5-p7
Unknown
JARID2
celestino-soper_12_DD/CHD_discovery_cases-patient2
FISH
Possibly maternal
Maternal
Possibly multiplex
Unknown
RPL7P26,STMND1,RBM24,ATXN1,CAP2
celestino-soper_12_DD/CHD_discovery_cases-patient5
FISH
De novo
Simplex
Segregated
RNU6-1114P,RPL7P26,SUMO2P13,FAM8A1,RNU6-190P,RNA5SP204,RNU6-263P,DDX18P3,MIR548A1,RPL5P20,RNA5SP205,KRT18P38,UQCRFS1P3,RNU6-801P,ID4,RN7SL128P,E2F3-IT1,RNU6-141P,RNU6-150P,STMND1,RBM24,NHLRC1,TPMT,DEK,RNF144B,GMPR,ATXN1,CAP2,NUP153,KDM1B,MIR548A1HG,MBOAT1,E2F3,KIF13A,CDKAL1
di_benedetto_13_ASD_discovery_cases-case1
Microsatellite analysis
De novo
Likely simplex
Likely segregated
RNU6-522P,RNU6-645P,ARPC3P5,LINC02543,MIR4639,MRPL42P2,RNU6-1114P,MYLIP,JARID2,DTNBP1,GMPR,ATXN1
egger_14_ASD_discovery_cases-caseA196
Unknown
Unknown
RNA5SP204,NUP153
engchuan_15_ASD_discovery_cases-case18097_301
Unknown
CDKAL1
engchuan_15_ASD_discovery_cases-case3146_4
Unknown
CAP2
engchuan_15_ASD_discovery_cases-case4257_1
Unknown
RPL7P26,SUMO2P13,FAM8A1,RNU6-190P,RNA5SP204,CAP2,NUP153,KIF13A
engchuan_15_ASD_discovery_cases-case4272_1
Unknown
CASC15
engchuan_15_ASD_discovery_cases-case5246_3
Unknown
engchuan_15_ASD_discovery_cases-case5291_4
Unknown
MBOAT1
engchuan_15_ASD_discovery_cases-case6035_3
Unknown
CASC15
engchuan_15_ASD_discovery_cases-case8617_201
Unknown
CDKAL1
gai_11_ASD_replication_cases-AU023604
Inherited
0 genes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000838
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL7P26,SUMO2P13,FAM8A1,RNU6-190P,RNA5SP204,CAP2,NUP153,KIF13A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004892
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ATXN1
krumm_13_ASD_discovery_cases-case12758.p1
Maternal
Simplex
Segregated
GPLD1,ALDH5A1
krumm_13_ASD_discovery_cases-case13876.p1
Maternal
Simplex
Segregated
CDKAL1
krumm_15_ASD_discovery_cases-case13876.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CDKAL1
lesca_12_EP_discovery_cases-case13-19
Unknown
Unknown
Unknown
levy_11_ASD_discovery_cases-11505.p1
Paternal
Simplex
Not segregated
CASC15
lintas_17_ASD_discovery_cases-case17.2
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 2/3 affected siblings)
RNU6-522P,RNU6-645P,JARID2
lintas_17_ASD_discovery_cases-case17.3
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 2/3 affected siblings)
RNU6-522P,RNU6-645P,JARID2
marshall_08_ASD_discovery_cases-MM0212-004
qPCR, qmPCR
Unknown
NA
NA
RPL7P26,SUMO2P13,CAP2
mosca_16_DCD_discovery_cases-case105503
Unknown
Unknown
Unknown
nava_13_ASD_discovery_cases-Fam1252Proband11045
Maternal
Simplex
Unknown
RPL7P26,SUMO2P13,FAM8A1,RNU6-190P,CAP2,NUP153
pinto_14_ASD_discovery_cases2-case18097_301
qPCR
Paternal
Multiplex
Segregated (CNV also present in affected sibling)
CDKAL1
prasad_12_ASD_discovery_cases-case117372L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case137573L
Unknown
Unknown
Unknown
GMPR
prasad_12_ASD_discovery_cases-case55634
Unknown
Unknown
Unknown
MBOAT1
prasad_12_ASD_discovery_cases-case61384
Unknown
Unknown
Unknown
CAP2
prasad_12_ASD_discovery_cases-case84823
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-342
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
ID4
sanders_11_ASD_discovery_cases-11073.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11131.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11141.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11256.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATXN1
sanders_11_ASD_discovery_cases-11397.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CASC15
sanders_11_ASD_discovery_cases-11505.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CASC15
sanders_11_ASD_discovery_cases-11600.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12014.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CASC15
sanders_11_ASD_discovery_cases-12108.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12232.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12287.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATXN1
sanders_11_ASD_discovery_cases-12312.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12664.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CASC15
sanders_11_ASD_discovery_cases-12690.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CASC15
sanders_11_ASD_discovery_cases-12708.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATXN1
sanders_11_ASD_discovery_cases-12851.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CASC15
spataro_23_ASD/DD/ID_discovery_cases-case60
MLPA or aCGH
De novo
DTNBP1,JARID2
verberne_20_DD/ID_discovery_cases-case1
De novo
JARID2
verberne_20_DD/ID_discovery_cases-case2
De novo
JARID2
verberne_20_DD/ID_discovery_cases-case3
De novo
RNU6-522P,RNU6-645P,JARID2
verberne_20_DD/ID_discovery_cases-case4
De novo
RNU6-522P,RNU6-645P,JARID2
verberne_20_DD/ID_discovery_cases-case5
Paternal
Paternal
Simplex
Segregated
JARID2
verberne_20_DD/ID_discovery_cases-case6
Unknown
Simplex
Segregated
JARID2
verberne_20_DD/ID_discovery_cases-case8
De novo
JARID2-AS1,RNU6-522P,RNU6-645P,JARID2,DTNBP1
verberne_22_ASD/DD/ID_discovery_cases-case122
De novo
JARID2
verberne_22_DD_discovery_cases-case6
Maternal
Simplex
Segregated
JARID2
verberne_22_DD_discovery_cases-case7
Unknown
Simplex
Segregated
JARID2
zhou_19_ASD_discovery_cases-caseAU052603
qPCR
De novo
JARID2
zhou_19_ASD_discovery_cases-caseAU052703
qPCR
De novo
JARID2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB279093_0067942606
Unknown
MBOAT1
engchuan_15_ASD_discovery_controls-controlB431870_1007874682
Unknown
TPMT,DEK,KDM1B
engchuan_15_ASD_discovery_controls-controlB647111_1007846512
Unknown
CDKAL1
engchuan_15_ASD_discovery_controls-controlB782197_1007875255
Unknown
ATXN1
engchuan_15_ASD_discovery_controls-controlB962764_1007843925
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900066_900066
Unknown
MBOAT1
kanduri_15_ASD_discovery_controls-control_split1803
Unknown
Intergenic CNV: nearest genes, HDGFL1(dist=1060368),NRSN1(dist=478067)
krumm_15_ASD_discovery_controls-control12033.s1
Illumina 1MDuo
Maternal
NHLRC1,TPMT,KDM1B,KIF13A
krumm_15_ASD_discovery_controls-control12033.s1
Illumina 1MDuo
Maternal
RNU6-150P,CDKAL1
krumm_15_ASD_discovery_controls-control14127.s1
Omni2.5-4v1
Maternal
RNU6-150P,CDKAL1
levy_11_ASD_discovery_controls-11505.s1
Paternal
Simplex
NA
CASC15
levy_11_ASD_discovery_controls-12314.s1
Maternal
Simplex
NA
PRL,CASC15
nord_11_ASD_discovery_controls-04C27079
0 genes
nord_11_ASD_discovery_controls-04C27934
ATXN1
sanders_11_ASD_discovery_controls-11124.s1
Paternal
Simplex (quad)
NA
RNA5SP204,NUP153,KIF13A
sanders_11_ASD_discovery_controls-11256.s1
Maternal
Simplex (quad)
NA
ATXN1
sanders_11_ASD_discovery_controls-11265.s1
Paternal
Simplex (quad)
NA
CASC15
sanders_11_ASD_discovery_controls-11505.s1
Paternal
Simplex (quad)
NA
CASC15
sanders_11_ASD_discovery_controls-11895.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12033.s1
Maternal
Simplex (quad)
NA
NHLRC1,TPMT,KDM1B,KIF13A
sanders_11_ASD_discovery_controls-12033.s1
Maternal
Simplex (quad)
NA
RNU6-150P,CDKAL1
sanders_11_ASD_discovery_controls-12185.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12303.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12314.s1
Maternal
Simplex (quad)
NA
PRL,CASC15
sanders_11_ASD_discovery_controls-12444.s1
Maternal
Simplex (quad)
NA
CASC15
sanders_11_ASD_discovery_controls-12667.s1
Maternal
Simplex (quad)
NA
ATXN1
sanders_11_ASD_discovery_controls-12715.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12997.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13327.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available