8q12.3-q13.2CNV Type: Deletion
Largest CNV size: 3279694 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo 8q12.3-q13.2 deletion was observed in an ASD proband from a simplex family from the ASD: Genomes to Outcome Study cohort; in addition to an ASD diagnosis, the proband presented with intellectual disability, ADHD, and macrocephaly (Yuen et al., 2017).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
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_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
3279641
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
3279694
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Controls
No Control Data Available
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_replication_cases-case2-1617-003
N/A
M
ASD
Case from MSSNG cohort
64110247
67390209
3279963
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case2-1617-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: ADHD; Intellectual Disability; cafe au lait spots; macrocephaly
64110249
67390265
3280017
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case2-1617-003
No validation step reported
De novo
COX6CP8,MIR124-2HG,MIR124-2,BHLHE22,RPL31P41,PPIAP86,CRH,LINC00967,RRS1,RNU6-1324P,PTTG3P,SNHG6,SNORD87,RNA5SP268,LINC00251,ARMC1,TRIM55,RRS1-AS1,VXN,VCPIP1,C8orf44,MCMDC2,TCF24,COPS5,CYP7B1,LINC01299,MTFR1,PDE7A,ADHFE1,MYBL1,SGK3,PPP1R42,ARFGEF1,DNAJC5B,CSPP1
yuen_17_ASD_discovery_cases-case2-1617-003
Affymetrix CytoScan HD
De novo
Simplex
Segregated
COX6CP8,MIR124-2HG,MIR124-2,BHLHE22,RPL31P41,PPIAP86,CRH,LINC00967,RRS1,RNU6-1324P,PTTG3P,SNHG6,SNORD87,RNA5SP268,LINC00251,ARMC1,TRIM55,RRS1-AS1,VXN,VCPIP1,C8orf44,MCMDC2,TCF24,COPS5,CYP7B1,LINC01299,MTFR1,PDE7A,ADHFE1,MYBL1,SGK3,PPP1R42,ARFGEF1,DNAJC5B,CSPP1
Controls
No Control Data Available
No Animal Model Data Available