13q13.1-q13.2CNV Type: Duplication
Largest CNV size: 1099254 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A maternally-inherited duplication within this region was identified in a male ASD proband from SSC quad family 13590; this duplication was also observed in the proband's unaffected sibling (Krumm et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Duplication
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
1099254
0
1
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
2548857
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
1230954
0
1
1
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
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
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-case13590.p1
N/A
M
ASD
ASD proband from SSC quad family 13590. SRS score of 90.
Full-scale IQ (FSIQ) score of 86.
32732100
33831354
1099255
GRCh38
Duplication
No (not tested)
mahjani_21_ASD_discovery_cases-case234
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
32274853
34823709
2548857
GRCh38
Duplication
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
krumm_13_ASD_discovery_controls-control13590.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13590. SRS score of 36.
32735171
33966125
1230955
GRCh38
Duplication
No (not tested)
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_cases-case13590.p1
Maternal
Simplex
Not segregated
RNY1P4,TOMM22P3,LINC02344,RNU5A-4P,STARD13-AS,PDS5B,LINC00423,KL,STARD13,STARD13-IT1,RFC3
mahjani_21_ASD_discovery_cases-case234
Unknown
BRCA2,STARD13,N4BP2L1,N4BP2L2-IT2,TOMM22P3,ZAR1L,GAMTP2,ATP8A2P2,STARD13-AS,RNU5A-4P,LINC00457,LINC00423,RNY1P4,STARD13-IT1,VDAC1P12,RFC3,LINC02344,LINC02343,IFIT1P1,FRY,KL,N4BP2L2,PDS5B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_controls-control13590.s1
Maternal
Simplex
RNY1P4,TOMM22P3,LINC02344,RNU5A-4P,STARD13-AS,PDS5B,LINC00423,KL,STARD13,STARD13-IT1,RFC3
No Animal Model Data Available