2p15CNV Type: Deletion-Duplication
Largest CNV size: 1487491 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
Deletion
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Deletion
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bagheri_16_DD/ID_discovery_cases
Eight novel cases with 2p16.1-p15 microdeletion syndrome
8
All eight cases presented with developmental delay (7/8 with intellectual disability, 7/8 with delayed language skills, 6/8 with microcephaly)
Range, 1 yr. 8 mos.-16 yrs.
87.50% Male
2667218
3
0
3
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
770000
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
84876
1
0
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
50723
1
1
2
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
55127
0
1
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
790410
1
0
1
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
1440117
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1440144
N/A
N/A
3
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
1124167
0
1
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
1124168
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
600000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
1486536
0
1
1
levy_17_DD_discovery_cases
Three individuals with deletions within the 2p16.1-p15 region: two with 2p15 deletions involving the XPO1 gene, and one with a 2p16.1 deletion involving the BCL11A gene
3
Two individuals presented with developmental delay and behavioral problems/autistic features; the third presented with dysmorphic features and structural brain abnormalities (terminated pregnancy)
Range, 36 weeks gestation-7 years
66.67% Male
183000
2
0
2
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
103000
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
635566
0
1
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
24362
1
1
2
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
348564
0
1
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
1487491
1
3
4
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
39194
0
1
1
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
770000
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
248850
8
2
10
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
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
23290
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
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)
24362
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.
20294
3
0
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bagheri_16_DD/ID_discovery_cases
N/A
Array SNP
Affymetrix CytoScan 750K, Affymetrix Cytogenetics Whole-Genome 2.7M, Affymetrix 6.0, Signature Genomics SignatureChipOSTM
Microsatellite analysis
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
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)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
levy_17_DD_discovery_cases
France
aCGH, solid phase hybridization
Illumina CytoSNP-12, Agilent Human Genome CGH 8x60
CNVPartition, ADM2
Illumina GenomeStudio, Agilent Cytogenomics
qPCR
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
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
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
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
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bagheri_16_DD/ID_discovery_cases-case6
5 yrs. 11 mos.
M
Developmental delay/intellectual disability
Birth/neonatal history: intrauterine growth retardation (IUGR); postnatal growth retardation, feeding problems. Developmental milestones: developmental delay; delayed language skills. Motor and musculoskeletal evaluation: hypotonia, leg spasticity; camptodactyly, other digital anomalies. Behavioral/psychiatric evaluation: unspecified behavioral abnormalities. Epilepsy/seizures: none reported. Vision evaluation: strabismus, disturbed vision. Additional medical history: frequent ear infections; abnormal hematologic features; unspecified thoracic abnormalities (pectus, hernia, reflux), stomach abnormalities., abnormality of the testes. Dysmorphic features: bitemporal narrowing, metopic prominence or metopic craniosynostosis, downslanting palpebral fissures, abnormal nasal root (broad/high or other), dysplastic ears, smooth and long philtrum, smooth upper vermillion border, high narrow palate, maxillary, cleft lip/palate, dental abnormalities (malocclusion), hair abnormalities, skin abnormalities. Growth parameters: microcephaly; weight <3rd %ile, OFC <3rd %ile.
Developmental delay/intellectual disability
61211364
61570824
359461
GRCh38
Deletion
No
bagheri_16_DD/ID_discovery_cases-case7
12 yrs.
M
Developmental delay/intellectual disability
Birth/neonatal history: feeding problems. Developmental milestones: developmental delay; delayed language skills. Motor and musculoskeletal evaluation: hypotonia, leg spasticity; abnormal curvature of the spine; other digital anomalies. Behavioral/psychiatric evaluation: unspecified behavioral abnormalities. Additional medical history: frequent upper respiratory infections, frequent ear infections; unspecified thoracic abnormalities (pectus, hernia, reflux); abnormality of the testes. Dysmorphic features: bitemporal narrowing, metopic prominence or craniosynostosis, abnormal head shape, epicanthal folds, telecanthus, hypertelorism, bilateral tear duct obstruction or absence, long and straight eyelashes, synophrys, abnormal nasal root (broad/high or other), dysplastic ears, smooth and long philtrum, protruding tongue, thin upper lip vermillion, high narrow palate, dental abnormalities (malocclusion), hair abnormalities, skin abnormalities. Growth parameters: microcephaly; height <3rd %ile, weight <3rd %ile, OFC <3rd %ile.
Developmental delay/intellectual disability
61358771
64025990
2667220
GRCh38
Deletion
Yes
bagheri_16_DD/ID_discovery_cases-case8
12 yrs.
M
Developmental delay/intellectual disability
Birth/neonatal history: feeding problems. Developmental milestones: developmental delay; delayed language skills. Motor and musculoskeletal evaluation: hypotonia; camptodactyly, other digital anomalies. Behavioral/psychiatric evaluation: attention deficit behavior, other unspecified behavioral abnormalities. Epilepsy/seizures: none reported. Additional medical history: frequent upper respiratory infections; unspecific thoracic abnormalities (pectus, hernia, reflux). Dysmorphic features: abnormal head shape, epicanthal folds, downslanting palpebral fissures, dysplastic ears, smooth upper vermillion border, retrognathia, maxillary.
Developmental delay/intellectual disability
61512631
62307363
794733
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU035505
NA
F
ASD
NA
NA
62031094
62801584
770491
GRCh38
Duplication
Yes
cucinotta_23_ASD_discovery_cases-case43
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
61465437
61550312
84876
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5032_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
61970743
62003835
33093
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6024_7
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
61862803
61913526
50724
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0010081
N/A
F
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
61478819
61533945
55127
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001973
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
61515438
62305848
790411
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11716.p1
N/A
M
ASD
ASD proband from SSC quad family 11716. SRS score of 90.
Full-scale IQ (FSIQ) score of 49.
61331275
62771392
1440118
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11251.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
61162493
61164527
2035
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11716.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
61331273
62771417
1440145
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14286.p1
N/A
N/A
ASD
Proband from the Simons Simplex Collection (SSC). Family type:
61256383
61296925
40543
GRCh38
N/A
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1410
17 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
61372285
62496451
1124167
GRCh38
Duplication
N/A
kushima_22_SCZ_discovery_cases-caseSCZ1410
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
61372284
62496451
1124168
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU035504
N/A
F
ASD
62034865
62603865
569001
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11716.p1
NA
M
ASD
NA
NA
61330138
62816673
1486536
GRCh38
Duplication
No
levy_17_DD_discovery_cases-caseP1
36 weeks gestation
F
Dysmorphic features
G5P4 female referred for prenatal diagnosis due to high nuchal transparency; supratentorial measurements < 5th %ile; fetal autopsy performed after termination of pregnancy at 34 + 2 weeks gestation; moderate astrogliosis and discrete perivascular mineralization detected by microscopy. Brain imaging: fetal MRI at 30 weeks of gestation confirmed short and thin corpus callosum first noted on third ultrasound scan. Motor and musculoskeletal evaluation: normal skeletal X-ray. Dysmorphic features: hypertelorism, bulging philtrum, anteverted nostrils, retrognathia. Growth parameters: weight of 2250 g (50th-75th %ile), crown-rump length of 32 cm, crown-heel length of 44 cm (5th-10th %ile), OFC of 31 cm (25th-50th %ile).
61402501
61585484
182984
GRCh38
Deletion
Yes
levy_17_DD_discovery_cases-caseP2
4 yrs.
M
Developmental delay and behavioral problems
Birth/neonatal history: born at 38 weeks gestation after pregnancy complicated by polyhydramnios; birth weight 90th %ile, length 90th %ile, OFC 90th %ile; neonatal feeding difficulties; lactose intolerance diagnosed at 3 months; extensive eczema. Developmental milestones: able to hold head still at 3 months, sat without support at 9 months, walked with support at 19 months; delayed acquisition of motor skills. Motor and musculoskeletal evaluation: rhizomelic shortening of all four limbs. Behavioral/psychiatric evaluation: behavioral problems, including poor frustration tolerance. EEG: normal. Brain imaging: complex brain malformation with agenesis of the corpus callosum, the fusion of lateral ventricles, and the fusion of the thalami and hydrocephalus detected on brain MRI. Visual evaluation: hyperopia, astigmatism. Dysmorphic features: small bitemporal diameter, marked frontal bossing, large fontanelle, downslanting palpebral fissures, hypertelorism, mild ptosis, flat nasal bridge, upturned and triangular nose, long and smooth philtrum, large mouth, single central incisor, dyplastic ears. Family history: third child of non-consanguineous parents with unremarkable family history.
61444551
61550106
105556
GRCh38
Deletion
Yes
napoli_17_ASD_discovery_cases-case41
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
63194762
63297755
102994
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case98HI0235A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU035504; NDAR ID NDAR_INVGV470MPK)
62135829
62771394
635566
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case76821-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
62107933
62132294
24362
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case94072
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
61992733
62015849
23117
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_600
3 yrs.
M
ASD and developmental delay
ASD
Global developmental delay
61389517
61738080
348564
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11251.p1
7.3
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 84; verbal IQ, 88
61154393
61167716
13324
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11343.p1
8.3
M
ASD
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ 87
61309849
61792508
482660
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11716.p1
16.2
M
Autism
NA
Full-scale IQ, 48.88; non-verbal IQ, 78; verbal IQ, 20
61330029
62817520
1487492
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13218.p1
6.9
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
61901717
61908006
6290
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC08277
N/A
F
Control
Control from SSC cohort
61272356
61311550
39195
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_controls-control110036005551_
N/A
N/A
Control
No previous psychiatric history
61970743
62013651
42909
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
N/A
N/A
Control
No previous psychiatric history
61970743
62003835
33093
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB413550_1007872281
N/A
N/A
Control
No previous psychiatric history
61970743
62003835
33093
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB549487_1007840956
N/A
N/A
Control
No previous psychiatric history
63321557
63369701
48145
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB582098_1007870332
N/A
N/A
Control
No previous psychiatric history
62379646
62449771
70126
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB621185_1007852924
N/A
N/A
Control
No previous psychiatric history
61073615
61322465
248851
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB755839_1007845915
N/A
N/A
Control
No previous psychiatric history
61970743
62003835
33093
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900209_900209
N/A
N/A
Control
No previous psychiatric history
62343982
62382243
38262
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900276_900276
N/A
N/A
Control
No previous psychiatric history
63321557
63376582
55026
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901120_901120
N/A
N/A
Control
No previous psychiatric history
61970743
62003835
33093
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control13629.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13629. SRS score of 44.
61278164
61301454
23291
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11415.s1
13.6
M
Control (matched sibling)
NA
NA
63291337
63311631
20295
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12275.s1
8.4
M
Control (matched sibling)
NA
NA
61748523
61756818
8296
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12339.s1
12.9
F
Control (matched sibling)
NA
NA
61722165
61737428
15264
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bagheri_16_DD/ID_discovery_cases-case6
De novo
SNORA70B,XPO1,USP34
Reduced XPO1 protein levels observed (Western blotting)
bagheri_16_DD/ID_discovery_cases-case7
Microsatellite analysis
De novo, maternal allele deleted
SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,OTX1,DBIL5P2,RPS4XP5,HNRNPA1P66,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,MDH1,UGP2,USP34,COMMD1,WDPCP,EHBP1,VPS54
bagheri_16_DD/ID_discovery_cases-case8
Microsatellite analysis
De novo, maternal allele deleted
RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,XPO1,FAM161A,CCT4,B3GNT2,COMMD1
Reduced XPO1 protein levels observed (Western blotting)
christian_08_ASD_discovery_cases-AU035505
FISH, microsatellite
inherited
Simplex
NA
RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,B3GNT2,TMEM17,COMMD1,EHBP1
cucinotta_23_ASD_discovery_cases-case43
De novo
USP34-DT,XPO1,USP34
engchuan_15_ASD_discovery_cases-case5032_4
Unknown
COMMD1
engchuan_15_ASD_discovery_cases-case6024_7
Unknown
CCT4,COMMD1
feliciano_19_ASD_discovery_cases-caseSP0010081
De novo
Simplex
XPO1
null
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001973
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,XPO1,FAM161A,CCT4,B3GNT2,COMMD1
krumm_13_ASD_discovery_cases-case11716.p1
Paternal
Simplex
Segregated
SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,USP34,COMMD1,EHBP1
krumm_15_ASD_discovery_cases-case11251.p1
Illumina 1M
Paternal
Simplex
Segregated
C2orf74
krumm_15_ASD_discovery_cases-case11716.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,USP34,COMMD1,EHBP1
krumm_15_ASD_discovery_cases-case14286.p1
aCGH
De novo
Simplex
Likely segregated
USP34
kushima_18_SCZ_discovery_cases-caseSCZ1410
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
De novo
Unknown
Unknown
SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,XPO1,FAM161A,CCT4,B3GNT2,USP34,COMMD1
kushima_22_SCZ_discovery_cases-caseSCZ1410
qRT-PCR
De novo
FAM161A,COMMD1,RPSAP26,SNORA70B,RPL31P30,RPS29P10,RPS24P7,MIR5192,USP34-DT,RN7SL51P,RN7SL18P,RNU6-1145P,XPO1,USP34,B3GNT2,CCT4
leppa_16_ASD_discovery_cases-AU035504
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,B3GNT2,TMEM17,COMMD1
levy_11_ASD_discovery_cases-11716.p1
Paternal
Simplex
Segregated
SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,USP34,COMMD1,EHBP1
levy_17_DD_discovery_cases-caseP1
qPCR
Unknown
Unknown
Unknown
SNORA70B,XPO1,USP34
levy_17_DD_discovery_cases-caseP2
qPCR
De novo
Simplex
Likely segregated
XPO1,USP34
napoli_17_ASD_discovery_cases-case41
RT-PCR
Unknown
WDPCP
poultney_13_ASD_discovery_cases-case98HI0235A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,B3GNT2,TMEM17,COMMD1,EHBP1
prasad_12_ASD_discovery_cases-case76821-L
Unknown
Unknown
Unknown
COMMD1
prasad_12_ASD_discovery_cases-case94072
Unknown
Unknown
Unknown
COMMD1
quintela_17_DD/ID_discovery_cases-caseID_600
Unknown
Unknown
SNORA70B,RPS29P10,RNU6-1145P,XPO1,USP34
sanders_11_ASD_discovery_cases-11251.p1
Paternal
Simplex (quad-proband matched)
Segregated
C2orf74
sanders_11_ASD_discovery_cases-11343.p1
qPCR
De Novo
Simplex (trio)
NA
SNORA70B,RPS29P10,RNU6-1145P,XPO1,USP34
sanders_11_ASD_discovery_cases-11716.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SNORA70B,RPS29P10,RNU6-1145P,RPS24P7,RPSAP26,MIR5192,RN7SL51P,RN7SL18P,PSAT1P2,RSL24D1P2,XPO1,FAM161A,CCT4,B3GNT2,TMEM17,USP34,COMMD1,EHBP1
sanders_11_ASD_discovery_cases-13218.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
COMMD1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC08277
SNP VCF
De novo
USP34
engchuan_15_ASD_discovery_controls-control110036005551_
Unknown
COMMD1
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
Unknown
COMMD1
engchuan_15_ASD_discovery_controls-controlB413550_1007872281
Unknown
COMMD1
engchuan_15_ASD_discovery_controls-controlB549487_1007840956
Unknown
WDPCP
engchuan_15_ASD_discovery_controls-controlB582098_1007870332
Unknown
engchuan_15_ASD_discovery_controls-controlB621185_1007852924
Unknown
C2orf74,AHSA2P,KIAA1841,USP34
engchuan_15_ASD_discovery_controls-controlB755839_1007845915
Unknown
COMMD1
engchuan_15_ASD_discovery_controls-controlHABC_900209_900209
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900276_900276
Unknown
WDPCP
engchuan_15_ASD_discovery_controls-controlHABC_901120_901120
Unknown
COMMD1
krumm_13_ASD_discovery_controls-control13629.s1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
USP34
sanders_11_ASD_discovery_controls-11415.s1
Paternal
Simplex (quad)
NA
WDPCP
sanders_11_ASD_discovery_controls-12275.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12339.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available