15q15.2CNV Type: Deletion
Largest CNV size: 5195 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
Excess of rare, inherited truncating mutations in 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
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
28888
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
27440
1
1
2
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
5195
1
0
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
101000
1
0
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
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
162508
1
1
2
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
7284
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
27440
1
1
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
42339
2
0
2
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
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
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)
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
krumm_13_ASD_discovery_cases-case13148.p1
N/A
M
ASD
ASD proband from SSC quad family 13148. SRS score of 78.
Full-scale IQ (FSIQ) score of 52.
43284813
43292954
8142
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13825.p1
N/A
F
ASD
ASD proband from SSC quad family 13825. SRS score of 90.
Full-scale IQ (FSIQ) score of 58.
42515236
42544124
28889
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case12798.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
42558197
42585637
27441
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13163.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
43282516
43292097
9582
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12817.p1
9.4
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
43283426
43288621
5196
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseLAS6
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
43578962
43679952
100991
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-controlB421983_1007852920
N/A
N/A
Control
No previous psychiatric history
42890341
43052849
162509
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900051_900051
N/A
N/A
Control
No previous psychiatric history
42926296
42958590
32295
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control13148.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13148. SRS score of 51.
43284813
43292097
7285
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control12798.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42558197
42585637
27441
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13148.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
43282516
43292097
9582
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
42994548
43036887
42340
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12572.s1
6.6
F
Control (matched sibling)
NA
NA
42770350
42776610
6261
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_cases-case13148.p1
Paternal
Simplex
Not segregated
TGM7
krumm_13_ASD_discovery_cases-case13825.p1
Maternal
Simplex
Segregated
LRRC57,SNAP23
krumm_15_ASD_discovery_cases-case12798.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MYL12BP1,EIF4EBP2P2,HAUS2,STARD9
krumm_15_ASD_discovery_cases-case13163.p1
1M-Duov3
Maternal
Simplex
Segregated
TGM7
sanders_11_ASD_discovery_cases-12817.p1
Paternal
Simplex (quad-proband matched)
Segregated
TGM7
soueid_16_ASD_discovery_cases-caseLAS6
Both parents
Simplex
RNU6-554P,RNU6-610P,PDIA3P2,PPIP5K1,CKMT1B,STRC,CATSPER2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB421983_1007852920
Unknown
FDPSP4,TTBK2,UBR1
engchuan_15_ASD_discovery_controls-controlHABC_900051_900051
Unknown
FDPSP4,UBR1
krumm_13_ASD_discovery_controls-control13148.s1
Paternal
Simplex
TGM7
krumm_15_ASD_discovery_controls-control12798.s1
Illumina 1MDuo
Paternal
MYL12BP1,EIF4EBP2P2,HAUS2,STARD9
krumm_15_ASD_discovery_controls-control13148.s1
1M-Duov3
Paternal
TGM7
sanders_11_ASD_discovery_controls-11345.s1
Both parents
Simplex (quad)
NA
UBR1
sanders_11_ASD_discovery_controls-12572.s1
Unknown
Simplex (quad)
NA
TTBK2
No Animal Model Data Available