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22q13.31CNV Type: Deletion-Duplication


Largest CNV size: 157990 bp

Statistics Box:
Number of Reports: 16



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
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.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 501532
 2
 2
 4
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 407707
 0
 2
 2
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 115058
 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
 1746486
 0
 5
 5
 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
 20923
 1
 1
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 9635
 1
 1
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 22638
 1
 0
 1
 palumbo_17_DD/ID/ASD/EP_discovery_cases
 Cases with 22q13.31 microdeletions (1 previously unreported case, 14 cases from the DECIPHER database)
 15
 13/15 cases with 22q13.31 microdeletions presented with developmental delay/intellectual disability (DD/ID); 3 cases presented with autism, 3 cases presented with seizures
 N/A
 60.0% Male
 3150000
 1
 0
 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)
 10701
 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
 143369
 2
 1
 3
 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
 1988637
 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
 157990
 2
 2
 4
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 5800000
 1
 0
 1
 woodbury-smith_14_ASD_discovery_cases
 Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
 19
 Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
 N/A
 N/A
 142929
 1
 0
 1
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 1300000
 1
 1
 2
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 328440
 1
 1
 2

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
 3956
 1
 0
 1
 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
 597790
 1
 1
 2
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 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
 45283
 0
 1
 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
 76921
 2
 2
 4
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 83195
 1
 2
 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
 58074
 1
 1
 2
 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)
 143369
 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.
 
 618876
 2
 2
 4
 woodbury-smith_14_ASD_discovery_controls
 Platform-matched controls from the KORA and COGEND datasets
 2988
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 328440
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 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)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 palumbo_17_DD/ID/ASD/EP_discovery_cases
  N/A
 Array SNP, N/A
  Affymetrix CytoScan HD, N/A
 HMM
 Affymetrix ChAS v3.1
 Array SNP
 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
 
 
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 woodbury-smith_14_ASD_discovery_cases
  US and Canada
 Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
 PennCNV, QuantiSNP, iPattern
 None
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP
  BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 Affymeytrix Genotyping Console v3.0.2
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

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
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13a_ASD_discovery_controls1
  NA
  aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
  ADM-2
  Agilent Genomic Workbench
  None
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  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
  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
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  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
 
 
  woodbury-smith_14_ASD_discovery_controls
  Predominantly European
  Solid phase hybridization
  Illumina HumanOmni2.5 BeadChip
 
  PennCNV, QuantiSNP, iPattern
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

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_cases-case13077_913
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 47665624
 47718892
  53269
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4020_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43925269
 43982119
  56851
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5378_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 47075714
 47108660
  32947
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8533_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 46773778
 47275457
  501680
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case668-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 46550905
 46958613
  407709
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case685-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 47505867
 47527060
  21194
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13698.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 48190409
 48305466
  115058
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000771
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 46183346
 46791748
  608403
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000849
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 47069266
 47636658
  567393
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001627
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 46395546
 47339207
  943662
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001844
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45954698
 47245325
  1290628
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005336
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 46281772
 48028340
  1746569
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12011.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12011. SRS score of 82.
 Full-scale IQ (FSIQ) score of 82.
 44487623
 44497556
  9934
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12409.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12409. SRS score of 77.
 Full-scale IQ (FSIQ) score of 107.
 46891265
 46912188
  20924
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11346.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 45413458
 45414403
  946
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12011.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 44487923
 44497558
  9636
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-12656.p1
 NA
 M
 ASD
 NA
 NA
 46887978
 46910615
  22638
 GRCh38
 Deletion
 No
  palumbo_17_DD/ID/ASD/EP_discovery_cases-case1
 18 yrs.
 M
 Intellectual disability and speech delay
 Birth/neonatal history: prenatal ultrasound detected underdeveloped right kidney and choroid plexus cysts; normal 46,XY karyotype on chromosome analysis on amniotic cells; born at term by spontaneous vaginal delivery without complications; birth weight 4100 g (> 97th %ile), length 533 cm (> 97th %ile), and OFC 37 cm (> 97th %ile); postnatal abdominal ultrasound and renal scintigraphy confirmed reduced size of right kidney and compensatory enlargement of the left kidney (nephrology follow-up documented normal renal function). Developmental milestones: delayed psychomotor development; patient able to walk unsupported and speak first words at 3 years of age. Language and communication evaluation: speech delay. Motor and musculoskeletal evaluation: hypotonia; squared hands, distal placement of thumb, prominent digit pads; scoliosis, bilateral pes cavus, and hyperdontia (supernumerary maxillary premolars) noted at 18 years. Epilepsy/seizures: febrile seizures in childhood. EEG: abnormal EEG (treated with valproic acid until age of 7 years). Brain imaging: cerebral ultrasound performed during fourth month of life revealed dilatation of lateral and third ventricles, computed axial tomography showed slight atrophy of the brain; brain MRI at age of 7 years showed small T1-hyperintense spots of peritrigonal zone, cyst of the septum pellucidum, mild ventricular dilatation, and thinning of splenium of corpus callosum. Cardiac evaluation: bicuspid aortic valve. Dysmorphic features: broad nasal tip, widow's peak, abnormal position of hair whorl. Growth parameters: macrocephaly; weight of 29 kg (25th %ile), height of 138 cm (50th %ile), and OFC of 58 cm (> 97th %ile) at 10 years of age; weight of 60 kg (10th-25th %ile), height of 171 cm (10th-25th %ile), and OFC of 62 cm (> 97th %ile) at 18 years. Family history: second of three sons of non-consanguineous parents, family history was unremarkable for genetic conditions.
 Intellectual disability
 44750910
 47904511
  3153602
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case01HI2299A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU076304; NDAR ID NDAR_INVKK797NPG)
 
 44157980
 44168680
  10701
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case53696
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 45515265
 45658633
  143369
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case55262-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 46438172
 46492384
  54213
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case80022
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 45847598
 45882173
  34576
 Unknown
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_301
 13 yrs.
 M
 Intellectual disability
 Additional clinical information N/A
 Intellectual disability
 44075075
 46063711
  1988637
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12011.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
 44489710
 44495993
  6284
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12058.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 122; verbal IQ, 139
 48137921
 48198497
  60577
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12137.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 44905577
 44909256
  3680
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12409.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
 46889500
 47047490
  157991
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case54
 
 M
 DD/ID
 Rounded nasal tip, dental anomalies, arched palate, micrognathia, low set ears, hypotonia, cryptorchid testes, joint laxity, dysplastic pulmonary artery valve
 
 44938676
 50739836
  5801161
 GRCh38
 Deletion
 No
  woodbury-smith_14_ASD_discovery_cases-case23
 N/A
 N/A
 ASD
 Family history: CNV also identified in two relatives with unknown affection status
 
 44026304
 44169232
  142929
 GRCh38
 Deletion
 No
  xu_16_ASD/DD/ID_discovery_cases-case38
 13 yrs.
 M
 Phelan-McDermid syndrome
 Severe ASD, absent speech, seizures, global developmental delay
 
 45233185
 46560559
  1327375
 GRCh38
 Deletion
 No
  xu_16_ASD/DD/ID_discovery_cases-case38
 13 yrs.
 M
 Phelan-McDermid syndrome
 Severe ASD, absent speech, seizures, global developmental delay
 
 44348689
 45233185
  884497
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case630
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 43838974
 44167413
  328440
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case631
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 45706763
 45875715
  168953
 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-controlSSC03731
  N/A
  F
  Control
  Control from SSC cohort
 
  44456302
  44460258
  3957
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-controlB203042_1007874364
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43927042
  43982119
  55078
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900013_900013
  N/A
  N/A
  Control
  No previous psychiatric history
 
  46505862
  47103653
  597792
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1307
  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
 
  44322922
  44368204
  45283
  Unknown
  Duplication
  No
  krumm_13_ASD_discovery_controls-control12011.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12011. SRS score of 43.
 
  44487623
  44497556
  9934
  GRCh38
  Duplication
  Yes
  krumm_13_ASD_discovery_controls-control12375.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12375. SRS score of 46.
 
  43926934
  43981461
  54528
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12409.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12409. SRS score of 44.
 
  46891265
  46912188
  20924
  GRCh38
  Deletion
  Yes
  krumm_13_ASD_discovery_controls-control13606.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13606. SRS score of 49.
 
  44725243
  44802164
  76922
  GRCh38
  Deletion
  No (not tested)
  krumm_15_ASD_discovery_controls-control12011.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  44487923
  44497558
  9636
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12375.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  43926934
  43981461
  54528
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13606.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  44725243
  44808438
  83196
  GRCh38
  Deletion
  Yes
  levy_11_ASD_discovery_controls-12375.s1
  NA
  F
  Control
  NA
  NA
  43924354
  43982427
  58074
  GRCh38
  Duplication
  No
  levy_11_ASD_discovery_controls-12656.s1
  NA
  M
  Control
  NA
  NA
  46887978
  46910615
  22638
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12375.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  43925269
  43982119
  56851
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12409.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  46889500
  47047490
  157991
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12656.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  46889500
  46910711
  21212
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13001.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  47207419
  47826296
  618878
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case13077_913
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4020_1
 
 
 Unknown
 
 
 PNPLA3,SAMM50
 
 engchuan_15_ASD_discovery_cases-case5378_3
 
 
 Unknown
 
 
 TBC1D22A
 
 engchuan_15_ASD_discovery_cases-case8533_201
 
 
 Unknown
 
 
 TBC1D22A-AS1,TBC1D22A
 
 gazzellone_14_ASD_discovery_cases-case668-3
 
 
 Unknown
 Unknown
 Unknown
 TBC1D22A-AS1,CERK,GRAMD4,TBC1D22A
 
 gazzellone_14_ASD_discovery_cases-case685-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13a_ASD_discovery_cases-13698.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 MIR3201
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000771
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CDPF1,PKDREJ,GTSE1-DT,PPARA,GTSE1,TRMU,CERK,TTC38,CELSR1,GRAMD4,TBC1D22A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000849
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01644,LINC00898,TBC1D22A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001627
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 TBC1D22A-AS1,CERK,CELSR1,GRAMD4,TBC1D22A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001844
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,TTC38,CELSR1,GRAMD4,TBC1D22A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005336
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GTSE1-DT,TBC1D22A-AS1,GTSE1,TRMU,CERK,LINC01644,LINC00898,TTC38,CELSR1,GRAMD4,TBC1D22A
 
 krumm_13_ASD_discovery_cases-case12011.p1
 
 
 Paternal
 Simplex
 Not segregated
 RTL6
 
 krumm_13_ASD_discovery_cases-case12409.p1
 
 
 Maternal
 Simplex
 Not segregated
 TBC1D22A
 
 krumm_15_ASD_discovery_cases-case11346.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 RIBC2,SMC1B
 
 krumm_15_ASD_discovery_cases-case12011.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RTL6
 
 levy_11_ASD_discovery_cases-12656.p1
 
 
 Maternal
 Simplex
 Not segregated
 TBC1D22A
 
 palumbo_17_DD/ID/ASD/EP_discovery_cases-case1
 Array SNP (independent array)
 
 De novo
 Simplex
 Likely segregated
 MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A
 
 poultney_13_ASD_discovery_cases-case01HI2299A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PARVB
 
 prasad_12_ASD_discovery_cases-case53696
 
 
 Unknown
 Unknown
 Unknown
 TBC1D22A
 
 prasad_12_ASD_discovery_cases-case55262-L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case80022
 
 
 Unknown
 Unknown
 Unknown
 TBC1D22A
 
 quintela_17_DD/ID_discovery_cases-caseID_301
 
 
 Unknown
 
 Unknown
 LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,PARVB
 
 sanders_11_ASD_discovery_cases-12011.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 RTL6
 
 sanders_11_ASD_discovery_cases-12058.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12137.p1
 
 
 Maternal
 Simplex (trio)
 NA
 PHF21B
 
 sanders_11_ASD_discovery_cases-12409.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TBC1D22A-AS1,TBC1D22A
 
 tzetis_12_DD/ID_discovery_cases-case54
 
 
 Unknown
 Unknown
 
 MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
 
 woodbury-smith_14_ASD_discovery_cases-case23
 
 
 Unknown
 Extended multiplex
 Unknown
 PARVB
 
 xu_16_ASD/DD/ID_discovery_cases-case38
 
 
 Unknown
 
 
 LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1
 
 xu_16_ASD/DD/ID_discovery_cases-case38
 
 
 Unknown
 
 
 LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC00229,NUP50-DT,NUP50,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930
 
 yin_16_ASD_discovery_cases-case630
 
 
 Unknown
 Unknown
 Unknown
 PNPLA5,SULT4A1,PNPLA3,SAMM50,PARVB
 
 yin_16_ASD_discovery_cases-case631
 
 
 Unknown
 Unknown
 Unknown
 MIR4762,ATXN10
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC03731
  SNP VCF
 
  De novo
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB203042_1007874364
 
 
  Unknown
 
 
  PNPLA3,SAMM50
 
engchuan_15_ASD_discovery_controls-controlHABC_900013_900013
 
 
  Unknown
 
 
  TBC1D22A-AS1,CERK,CELSR1,GRAMD4,TBC1D22A
 
kanduri_15_ASD_discovery_controls-control_split1307
 
 
  Unknown
 
 
  PNPLA3,SAMM50
 
krumm_13_ASD_discovery_controls-control12011.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  RTL6
 
krumm_13_ASD_discovery_controls-control12375.s1
 
 
  Paternal
  Simplex
 
  PNPLA3,SAMM50
 
krumm_13_ASD_discovery_controls-control12409.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  TBC1D22A
 
krumm_13_ASD_discovery_controls-control13606.s1
 
 
  Paternal
  Simplex
 
  PRR5,PRR5-ARHGAP8,ARHGAP8
 
krumm_15_ASD_discovery_controls-control12011.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RTL6
 
krumm_15_ASD_discovery_controls-control12375.s1
  Illumina 1MDuo
 
  Paternal
 
 
  PNPLA3,SAMM50
 
krumm_15_ASD_discovery_controls-control13606.s1
  1M-Duov3
 
  Paternal
 
 
  PRR5,PRR5-ARHGAP8,ARHGAP8
 
levy_11_ASD_discovery_controls-12375.s1
 
 
  Paternal
  Simplex
  NA
  PNPLA3,SAMM50
 
levy_11_ASD_discovery_controls-12656.s1
 
 
  Maternal
  Simplex
  NA
  TBC1D22A
 
sanders_11_ASD_discovery_controls-12375.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PNPLA3,SAMM50
 
sanders_11_ASD_discovery_controls-12409.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TBC1D22A-AS1,TBC1D22A
 
sanders_11_ASD_discovery_controls-12656.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TBC1D22A
 
sanders_11_ASD_discovery_controls-13001.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC01644,LINC00898
 

No Animal Model Data Available
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