10q22.1CNV Type: Deletion
Largest CNV size: 222643 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
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
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
45445
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
51921
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
486496
0
1
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
41457
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
46552
2
1
3
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
211832
1
0
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
34213
2
0
2
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
222643
1
0
1
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
113626
0
1
1
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
174420
1
1
2
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
41457
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
41457
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
211832
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
222643
2
1
3
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
113626
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
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
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
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
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
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
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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
egger_14_ASD_discovery_cases-caseA67
16 yrs. (born 1998)
F
ASD
Diagnosis: early infantile autism/high functioning autism. Co-morbidities/additional features: speech present; obesity (BMI 28.7). Family history: none reported. 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.
Cognitive impairment (IQ 60-80)
72755141
72800585
45445
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2183_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71231338
71283259
51922
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001090
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
70036168
70522664
486497
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11267.p1
N/A
F
ASD
ASD proband from SSC quad family 11267. SRS score of 90.
Full-scale IQ (FSIQ) score of 85.
70844472
70885929
41458
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11267.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
70844472
70885929
41458
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13376.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
70877194
70885244
8051
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13762.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
70254956
70301508
46553
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11267.p1
NA
F
ASD
NA
NA
70842086
71053917
211832
GRCh38
Deletion
No
lintas_17_ASD_discovery_cases-case13.1
N/A
M
Autism
No additional clinical information available
72400158
72434371
34214
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case13.2
N/A
M
Autism
No additional clinical information available
72400158
72434371
34214
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11267.p1
13.2
F
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
70842056
71064699
222644
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case392
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
73134205
73247830
113626
GRCh38
Duplication
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
engchuan_15_ASD_discovery_controls-controlB585116_1007872290
N/A
N/A
Control
No previous psychiatric history
71946496
72120916
174421
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB999735_1007854262
N/A
N/A
Control
No previous psychiatric history
70138242
70232762
94521
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control11267.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11267. SRS score of 54.
70844472
70885929
41458
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11267.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
70844472
70885929
41458
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11267.s1
NA
M
Control
NA
NA
70842086
71053917
211832
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11267.s1
10.3
M
Control (matched sibling)
NA
NA
70842056
71064699
222644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
72494847
72507601
12755
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
71231338
71277142
45805
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
egger_14_ASD_discovery_cases-caseA67
Unknown
Unknown
MCU
engchuan_15_ASD_discovery_cases-case2183_1
Unknown
UNC5B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001090
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CALM2P2,RPS25P9,CEP57L1P1,YY1P1,H2AFY2,TYSND1,SAR1A,PPA1,LRRC20,EIF4EBP2,NODAL,AIFM2,PALD1,NPFFR1
krumm_13_ASD_discovery_cases-case11267.p1
Maternal
Simplex
Not segregated
PCBD1,SGPL1
krumm_15_ASD_discovery_cases-case11267.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PCBD1,SGPL1
krumm_15_ASD_discovery_cases-case13376.p1
1M-Duov3
Maternal
Simplex
Segregated
PCBD1,SGPL1
krumm_15_ASD_discovery_cases-case13762.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
LRRC20,NPFFR1
levy_11_ASD_discovery_cases-11267.p1
Maternal
Simplex
Not segregated
PCBD1,SGPL1
lintas_17_ASD_discovery_cases-case13.1
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Segregated (CNV observed in all both affected siblings)
MICU1
lintas_17_ASD_discovery_cases-case13.2
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Segregated (CNV observed in all both affected siblings)
MICU1
sanders_11_ASD_discovery_cases-11267.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCBD1,SGPL1
yin_16_ASD_discovery_cases-case392
Unknown
Unknown
Unknown
EIF4A2P2,FAM149B1,DNAJC9,ECD
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB585116_1007872290
Unknown
CHST3,SPOCK2,ASCC1
engchuan_15_ASD_discovery_controls-controlB999735_1007854262
Unknown
CALM2P2,RPS25P9,TYSND1,SAR1A,PPA1
krumm_13_ASD_discovery_controls-control11267.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
PCBD1,SGPL1
krumm_15_ASD_discovery_controls-control11267.s1
Illumina 1M
Maternal
PCBD1,SGPL1
levy_11_ASD_discovery_controls-11267.s1
Maternal
Simplex
NA
PCBD1,SGPL1
sanders_11_ASD_discovery_controls-11267.s1
Maternal
Simplex (quad)
NA
PCBD1,SGPL1
sanders_11_ASD_discovery_controls-11798.s1
Paternal
Simplex (quad)
NA
MICU1
sanders_11_ASD_discovery_controls-12261.s1
Maternal
Simplex (quad)
NA
UNC5B
No Animal Model Data Available