10p15.1-p14CNV Type: Deletion
Largest CNV size: 8199 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
5361506
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
8859095
2
0
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
4735931
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
8199
10
0
10
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
1070713
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
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)
4735931
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.
12038
11
0
11
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
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
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
qPCR
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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
han_22_ASD/DD/ID_discovery_cases-case15D919
18 mos. 7 days
F
Developmental delay
5745341
11106846
5361506
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC28846
N/A
M
Dysmorphic features
Database: Signature. Indication for study: Dysmorphic Features
3935319
11978522
8043204
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC8145
N/A
F
Developmental delay
Database: Signature. Indication for study: Other Developmental Speech or Language Disorder
Developmental delay
3995572
12854859
8859288
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case168999
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
6378056
11113986
4735931
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11075.p1
6.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 54; verbal IQ, 24
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11353.p1
5.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 77; verbal IQ, 64
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11629.p1
17.6
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11839.p1
4
M
ASD
NA
Full-scale IQ, 100; non-verbal IQ, 101; verbal IQ, 99
6611974
6620173
8200
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12011.p1
7.9
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12066.p1
7.5
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12074.p1
6.3
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12081.p1
12.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12264.p1
8
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 49; verbal IQ, 36
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12316.p1
12.5
M
ASD
NA
Full-scale IQ, 112; non-verbal IQ, 109; verbal IQ, 114
6613344
6620173
6830
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
guo_17_ASD_discovery_controls-controlPY2991
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
6466415
7537127
1070713
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11075.s1
9.9
M
Control (matched sibling)
NA
NA
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11353.s1
6.8
M
Control (matched sibling)
NA
NA
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11501.s1
13.4
M
Control (matched sibling)
NA
NA
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11629.s1
11
F
Control (matched sibling)
NA
NA
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11679.s1
4
M
Control (matched sibling)
NA
NA
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12118.s1
14.8
F
Control (matched sibling)
NA
NA
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12316.s1
8
M
Control (matched sibling)
NA
NA
6613344
6620173
6830
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12536.s1
4.9
F
Control (matched sibling)
NA
NA
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13193.s1
11.3
M
Control (matched sibling)
NA
NA
6612823
6620173
7351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13226.s1
10.3
F
Control (matched sibling)
NA
NA
6612823
6624861
12039
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
han_22_ASD/DD/ID_discovery_cases-case15D919
De novo
ATP5F1C,ANKRD16,TASOR2,SFMBT2,TAF3,ITIH5,FBH1,RBM17,SFTA1P,IL15RA,ITIH2,IL2RA,GATA3,GDI2,LINC00710,CHCHD3P1,GATA3-AS1,LINC02656,LINC02649,PRPF38AP1,PRKCQ-AS1,CELF2-AS2,HSP90AB7P,RPL32P23,ELOCP3,NRBF2P5,CUX2P1,SDCBPP1,RPL12P28,KRT8P37,MIR3155A,LINC00708,LINC00707,LINC00709,RNA5SP299,MIR3155B,LINC00706,PFKFB3,PRKCQ,LINC02648,CELF2-DT,LINC02670,LINC02665,LINC02663,LINC02642,LINC02676,RN7SKP78,RNU6-535P,COX6CP17,LINP1,CELF2,KIN
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC28846
FISH
Unknown
Unknown
Unknown
MIR6078,RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,SFMBT2,USP6NL
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC8145
FISH
Unknown
Unknown
Unknown
RNU6-163P,LINC00705,ARL4AP3,LINC02561,RPL26P28,TUBAL3,CALML5,CALML3,RN7SL445P,NRBF2P5,RPL12P28,RPL32P23,RN7SKP78,MIR3155A,MIR3155B,SDCBPP1,LINC00706,COX6CP17,RNU6-535P,GATA3-AS1,PRPF38AP1,LINC00708,KRT8P37,CHCHD3P1,RNA5SP299,LINC00709,HSP90AB7P,CUX2P1,SFTA1P,CELF2-AS1,RNU6-1095P,RNU6-88P,MIR548AK,RN7SL198P,RNU6ATAC39P,MIR4480,MIR4481,MIR548Q,LINC00702,LINC00703,MANCR,AKR1E2,AKR1C6P,AKR1C2,AKR1C3,AKR1C5P,AKR1C8P,AKR1C4,AKR1C7P,NET1,CALML3-AS1,ASB13,FAM208B,ANKRD16,IL15RA,RBM17,PRKCQ-AS1,LINP1,KIN,ATP5F1C,GATA3,ELOCP3,LINC00710,CELF2-AS2,ECHDC3,PROSER2,PROSER2-AS1,DHTKD1,SEC61A2,CDC123,AKR1C1,UCN3,GDI2,FBH1,IL2RA,PFKFB3,PRKCQ,LINC00707,ITIH5,ITIH2,TAF3,CELF2,UPF2,NUDT5,SFMBT2,USP6NL,CAMK1D
prasad_12_ASD_discovery_cases-case168999
Unknown
Unknown
Unknown
ATP5C1,TAF3,SFTA1P,CELF2,FLJ45983,SFMBT2,KIN,PRKCQ,LOC100507127,LOC254312,ITIH2,ITIH5,GATA3,LOC439949
sanders_11_ASD_discovery_cases-11075.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PRKCQ-AS1
sanders_11_ASD_discovery_cases-11353.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PRKCQ-AS1
sanders_11_ASD_discovery_cases-11629.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PRKCQ-AS1
sanders_11_ASD_discovery_cases-11839.p1
Both parents
Simplex (quad-proband matched)
Segregated
PRKCQ-AS1
sanders_11_ASD_discovery_cases-12011.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PRKCQ-AS1
sanders_11_ASD_discovery_cases-12066.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
PRKCQ-AS1
sanders_11_ASD_discovery_cases-12074.p1
Paternal
Simplex (trio)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_cases-12081.p1
Paternal
Simplex (trio)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_cases-12264.p1
Maternal
Simplex (trio)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_cases-12316.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PRKCQ-AS1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
guo_17_ASD_discovery_controls-controlPY2991
qPCR
Unknown
LINC00706,COX6CP17,RNU6-535P,PRKCQ-AS1,LINP1,PRKCQ,LINC00707,SFMBT2
sanders_11_ASD_discovery_controls-11075.s1
Paternal
Simplex (quad)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_controls-11353.s1
Maternal
Simplex (quad)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_controls-11501.s1
Paternal
Simplex (quad)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_controls-11629.s1
Maternal
Simplex (quad)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_controls-11679.s1
Paternal
Simplex (quad)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_controls-12118.s1
Paternal
Simplex (quad)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_controls-12316.s1
Maternal
Simplex (quad)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_controls-12536.s1
Maternal
Simplex (quad)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_controls-12939.s1
Maternal
Simplex (quad)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_controls-13193.s1
Paternal
Simplex (quad)
NA
PRKCQ-AS1
sanders_11_ASD_discovery_controls-13226.s1
Paternal
Simplex (quad)
NA
PRKCQ-AS1
No Animal Model Data Available