12q14.3CNV Type: Deletion-Duplication
Largest CNV size: 343183 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
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated 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
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
258
0
1
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
24147
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
86298
1
0
1
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
965000
0
1
1
gorker_18_ASD_discovery_cases
Individuals living in the Trakya region of Turkey with a pre-diagnosis of ASD who were referred to the Trakya University Child and Adolescent Psychiatry Department between January 2015-December 2015
53
All cases were diagnosed with ASD according to DSM-V and were further assessed using the Childhood Autism Rating Scales (CARS); 14 cases were comorbid with intellectual disability, 16 cases were comorbid with ADHD (assessed by the Conners Parent Rating Scale-Revised Short/CPRS-RS)
Mean age, 9.2 years
74.0% Male
127490
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
299625
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
10031
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
81133
3
0
3
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
343183
5
0
5
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
48010
0
1
1
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
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.
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)
81133
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.
3913
1
0
1
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
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
None
gorker_18_ASD_discovery_cases
Turkish
aCGH
Agilent SurePrint G3 8x60K
N/A
Agilent Feature Extraction v.12.0.1.1, Agilent Cytogenomics v.2.9.2.4
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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-11345
NA
M
ASD
NA
NA
65240013
65240271
259
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case48
NA
M
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
66483572
66507718
24147
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5355_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66961826
67048124
86299
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-14073.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
66109953
67069953
960001
GRCh38
Duplication
No
gorker_18_ASD_discovery_cases-case7
6 yrs.
M
ASD, ADHD, ID
ASD and ADHD
Intellectual disability
66668566
66796056
127491
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case14073.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
66379279
66678904
299626
GRCh38
Duplication
Yes
nord_11_ASD_discovery_cases-223-1
ASD
63797099
63807129
10031
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case100657
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
63476724
63486424
9701
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case102830
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
65645909
65727041
81133
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case62798L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
65469543
65499142
29600
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11044.p1
5.5
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ 112
66718492
66725924
7433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11122.p1
7.8
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
66657445
67000628
343184
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11407.p1
11.6
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
66961826
67048124
86299
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
66390031
66393944
3914
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12759.p1
8.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 114; verbal IQ, 89
67140421
67142879
2459
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-controlB468914_1007854173
N/A
N/A
Control
No previous psychiatric history
66575440
66623450
48011
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
66390031
66393944
3914
GRCh38
Deletion
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-11345
Unknown
Simplex
NA
LEMD3
chehbani_22_ASD_discovery_cases-case48
Unknown
Simplex
GRIP1
engchuan_15_ASD_discovery_cases-case5355_3
Unknown
GRIP1
girirajan_13a_ASD_discovery_cases-14073.p1
Unknown
Simplex
Unknown
LLPH-DT,RBMS1P1,MIR6502,PDCL3P7,RN7SKP166,OSBPL9P5,LLPH,TMBIM4,OSBPL9P4,IRAK3,HELB,GRIP1
gorker_18_ASD_discovery_cases-case7
Unknown
Unknown
Unknown
GRIP1
krumm_15_ASD_discovery_cases-case14073.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
OSBPL9P5,OSBPL9P4,GRIP1
nord_11_ASD_discovery_cases-223-1
Maternal
WIF1
prasad_12_ASD_discovery_cases-case100657
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case102830
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case62798L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11044.p1
Maternal
Simplex (trio)
NA
GRIP1
sanders_11_ASD_discovery_cases-11122.p1
Maternal
Simplex (trio)
NA
GRIP1
sanders_11_ASD_discovery_cases-11407.p1
Paternal
Simplex (quad-proband matched)
Segregated
GRIP1
sanders_11_ASD_discovery_cases-12252.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GRIP1
sanders_11_ASD_discovery_cases-12759.p1
Paternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB468914_1007854173
Unknown
GRIP1
sanders_11_ASD_discovery_controls-12033.s1
Unknown
Simplex (quad)
NA
GRIP1
No Animal Model Data Available