10q22.2CNV Type: Deletion-Duplication
Largest CNV size: 97988 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
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.
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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
3425
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
477400
1
1
2
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
204767
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
5565
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
39011
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
477401
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)
5569
0
3
3
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
102332
0
3
3
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
268487
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
97988
1
1
2
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)
1700000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
105453
0
2
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
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
5565
0
1
1
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)
5569
0
1
1
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)
102332
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.
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
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
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range 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
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11208
NA
F
ASD
NA
NA
73467611
73471036
3426
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14393_5020
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73371787
73849187
477401
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case5006_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73480219
73519229
39011
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004583
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
74263235
74468002
204768
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11298.p1
N/A
M
ASD
ASD proband from SSC quad family 11298. SRS score of 90.
Full-scale IQ (FSIQ) score of 141.
73250851
73256416
5566
GRCh38
Duplication
No (not tested)
pinto_10_ASD_discovery_cases-case5006_3
NA
M
ASD
NA
NA
73480219
73519229
39011
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case14393_5020
5 yrs. 7 mos.
M
ASD
ASD on ADI-R and ADOS, language delay (first words 12 mo, first phrases 36 mo), verbal; seizures. Family history: N/A.
Griffiths at 5 y 7 mo: language DQ 101, performance DQ 75, global DQ 84.
73371787
73849187
477401
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case98HI0204A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU003003; NDAR ID N/A)
73250850
73256418
5569
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0784B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU046506; NDAR ID NDAR_INVGB319VHG)
73250850
73256418
5569
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-caseHI4823
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1644303; NDAR ID N/A)
73250850
73256418
5569
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case161582L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
76650055
76752386
102332
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case161582L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
76425726
76511183
85458
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47395
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
74911489
74948515
37027
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-226a2
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes (onset at 1 day).
Developmental delay: N/A. Intellectual disability: N/A.
75053604
75322090
268487
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
74224891
74322879
97989
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12472.p1
5.6
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
74600264
74614146
13883
GRCh38
Duplication
No
tzetis_12_DD/ID_discovery_cases-case28
M
DD/ID
Metopic crarniosynosteosis, dolichocephaly, upturned nasal tip, microretrognathia, 5th finger clinodactyly, speech delay, hypotonia
73992805
75697203
1704399
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
engchuan_15_ASD_discovery_controls-controlB554479_1007854056
N/A
N/A
Control
No previous psychiatric history
73942097
73991006
48910
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB647111_1007846512
N/A
N/A
Control
No previous psychiatric history
75244669
75350122
105454
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control12853.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
73250851
73256416
5566
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C31298A
N/A
F
Control
NIMH Control (NIMH ID 79383)
73250850
73256418
5569
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11208
Unknown
Simplex
NA
PPP3CB
engchuan_15_ASD_discovery_cases-case14393_5020
De novo
RPL26P6,RNU6-883P,RPS26P41,MYOZ1,RNA5SP320,GLUD1P3,DUSP8P5,CHCHD1,ZSWIM8-AS1,MSS51,PPP3CB,PPP3CB-AS1,AGAP5,BMS1P4,SEC24C,FUT11,NDST2,CAMK2G,USP54,SYNPO2L,ZSWIM8,ANXA7
engchuan_15_ASD_discovery_cases-case5006_3
Unknown
PPP3CB,PPP3CB-AS1,USP54
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004583
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TIMM9P1,RPSAP6,RAB5CP1,ADK
krumm_13_ASD_discovery_cases-case11298.p1
Maternal
Simplex
Segregated
MRPS16,DNAJC9-AS1,CFAP70
pinto_10_ASD_discovery_cases-case5006_3
Agilent1M
maternal
NA
NA
PPP3CB,PPP3CB-AS1,USP54
pinto_14_ASD_discovery_cases2-case14393_5020
qPCR
De novo
Simplex
(not tested)
RPL26P6,RNU6-883P,RPS26P41,MYOZ1,RNA5SP320,GLUD1P3,DUSP8P5,CHCHD1,ZSWIM8-AS1,MSS51,PPP3CB,PPP3CB-AS1,AGAP5,BMS1P4,SEC24C,FUT11,NDST2,CAMK2G,USP54,SYNPO2L,ZSWIM8,ANXA7
poultney_13_ASD_discovery_cases-case98HI0204A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MRPS16,DNAJC9-AS1,CFAP70
poultney_13_ASD_discovery_cases-case99HI0784B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MRPS16,DNAJC9-AS1,CFAP70
poultney_13_ASD_discovery_cases-caseHI4823
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MRPS16,DNAJC9-AS1,CFAP70
prasad_12_ASD_discovery_cases-case161582L
Unknown
Unknown
Unknown
VDAC2,COMTD1,LOC253264
prasad_12_ASD_discovery_cases-case161582L
Unknown
Unknown
Unknown
DUPD1,MYST4
prasad_12_ASD_discovery_cases-case47395
Unknown
Unknown
Unknown
PPP3CB,USP54
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-226a2
qPCR
Maternal
Unknown
Unknown
PPIAP13,RPS26P42,RPL39P25,HMGA1P5,DUPD1,VDAC2,DUSP13,SAMD8,COMTD1,ZNF503-AS1,ZNF503
sanders_11_ASD_discovery_cases-11001.p1
Unknown
Simplex (trio)
NA
ADK
sanders_11_ASD_discovery_cases-12472.p1
Paternal
Simplex (trio)
NA
ADK
tzetis_12_DD/ID_discovery_cases-case28
Unknown
Unknown
TIMM9P1,RPSAP6,RAB5CP1,MRPL35P3,NDUFA8P1,POLR3DP1,FAM32CP,PPIAP13,RPS26P42,RPL39P25,HMGA1P5,ZNF503-AS2,MIR606,AP3M1,DUPD1,VDAC2,SPA17P1,VCL,KAT6B,DUSP13,SAMD8,COMTD1,ZNF503-AS1,ZNF503,ADK,LRMDA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB554479_1007854056
Unknown
engchuan_15_ASD_discovery_controls-controlB647111_1007846512
Unknown
RPL39P25,HMGA1P5,ZNF503-AS1,ZNF503
krumm_15_ASD_discovery_controls-control12853.s1
Illumina 1MDuo
Paternal
MRPS16,DNAJC9-AS1,CFAP70
poultney_13_ASD_discovery_controls-control04C31298A
Unknown
MRPS16,DNAJC9-AS1,CFAP70
No Animal Model Data Available