12q22CNV Type: Deletion-Duplication
Largest CNV size: 176911 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
793
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
128740
1
1
2
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
43023
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
113249
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)
94904
0
2
2
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
14955
1
0
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
176911
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
201039
0
2
2
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
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)
14955
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
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
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
brandler_18_ASD_discovery_cases-caseREACH000387
N/A
M
ASD
Case from REACH cohort
95157518
95158311
794
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3181_7
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
95137666
95266406
128741
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8629_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
92691678
92761759
70082
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case676-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
95228604
95271627
43024
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case12077.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
94169152
94282401
113250
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case05HI3601A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1406301; NDAR ID NDAR_INVUH659AJK)
95030617
95040599
9983
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
92770086
92864989
94904
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case46691
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
92201143
92216097
14955
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11522.p1
11.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
92625189
92633395
8207
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12077.p1
10.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
94113116
94290027
176912
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13063.p1
7.8
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
93803903
93808746
4844
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13192.p1
7.5
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 94
93287526
93299685
12160
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-controlB505778_1007874875
N/A
N/A
Control
No previous psychiatric history
94687786
94888825
201040
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB616228_1007853931
N/A
N/A
Control
No previous psychiatric history
95154697
95266406
111710
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseREACH000387
Not available
De novo
FGD6
engchuan_15_ASD_discovery_cases-case3181_7
Unknown
FGD6,VEZT
engchuan_15_ASD_discovery_cases-case8629_201
Unknown
PLEKHG7
gazzellone_14_ASD_discovery_cases-case676-3
Unknown
Unknown
Unknown
VEZT
krumm_15_ASD_discovery_cases-case12077.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PLXNC1
poultney_13_ASD_discovery_cases-case05HI3601A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NR2C1
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PLEKHG7,EEA1
prasad_12_ASD_discovery_cases-case46691
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11522.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12077.p1
Paternal
Simplex (trio)
NA
PLXNC1
sanders_11_ASD_discovery_cases-13063.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CRADD
sanders_11_ASD_discovery_cases-13192.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB505778_1007874875
Unknown
KRT19P2,MIR492
engchuan_15_ASD_discovery_controls-controlB616228_1007853931
Unknown
FGD6,VEZT
No Animal Model Data Available