10q25.2CNV Type: Deletion-Duplication
Largest CNV size: 161735 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
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
144873
1
0
1
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
54909
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
68871
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
138079
0
1
1
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
433667
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
161735
3
1
4
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
49638
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
68871
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
569138
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
161735
0
1
1
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
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
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
engchuan_15_ASD_discovery_cases-case3389_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111696268
111841141
144874
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case544-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
110817963
110872872
54910
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case12644.p1
N/A
M
ASD
ASD proband from SSC quad family 12644. SRS score of 90.
Full-scale IQ (FSIQ) score of 106.
112668217
112737088
68872
GRCh38
Duplication
No (not tested)
marshall_08_ASD_discovery_cases-NA0109-000
NA
M
ASD
NA
NA
110517582
110655660
138079
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-017
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
112023830
112457495
433666
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
112696068
112761120
65053
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12404.p1
5.1
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
112531538
112541086
9549
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12644.p1
10.7
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
112628513
112790248
161736
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12648.p1
9.8
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
110328760
110337491
8732
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-controlB904265_1007873471
N/A
N/A
Control
No previous psychiatric history
111917497
111967135
49639
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12644.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12644. SRS score of 39.
112668217
112737088
68872
GRCh38
Duplication
No (not tested)
nord_11_ASD_discovery_controls-04C28423
Control
116299293
116868430
569138
Unknown
Duplication
sanders_11_ASD_discovery_controls-12644.s1
8.1
M
Control (matched sibling)
NA
NA
112628513
112790248
161736
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-case3389_3
Unknown
gazzellone_14_ASD_discovery_cases-case544-3
Unknown
Unknown
Unknown
PDCD4-AS1,RBM20,PDCD4
krumm_13_ASD_discovery_cases-case12644.p1
Maternal
Simplex
Not segregated
VTI1A
marshall_08_ASD_discovery_cases-NA0109-000
qPCR, qmPCR
Unknown
NA
NA
RPL7P35,SMC3,RBM20
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-017
qPCR
Maternal
Unknown
Unknown
MIR6715B,MIR6715A,TECTB,ACSL5,ZDHHC6,GUCY2GP,VTI1A,GPAM
sanders_11_ASD_discovery_cases-12119.p1
Paternal
Simplex (trio)
NA
VTI1A
sanders_11_ASD_discovery_cases-12404.p1
Maternal
Simplex (trio)
NA
VTI1A
sanders_11_ASD_discovery_cases-12644.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR4295,VTI1A
sanders_11_ASD_discovery_cases-12648.p1
Maternal
Simplex (quad-proband matched)
Segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
Unknown
krumm_13_ASD_discovery_controls-control12644.s1
Maternal
Simplex
VTI1A
nord_11_ASD_discovery_controls-04C28423
FAM160B1,TRUB1,ABLIM1,ATRNL1
sanders_11_ASD_discovery_controls-12644.s1
Maternal
Simplex (quad)
NA
MIR4295,VTI1A
No Animal Model Data Available