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11q14.2-q14.3CNV Type: Deletion


Largest CNV size: 1981022 bp

Statistics Box:
Number of Reports: 2



Summary Information

A paternally-inherited deletion within this region was identified in a male ASD case; a healthy sister was not available for testing, and the case's father had a history of reading difficulty and possible social impairment (Pinto et al., 2014).

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
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
 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
 1981021
 1
 0
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 1981022
 1
 0
 1

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
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  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
  engchuan_15_ASD_discovery_cases-case8549_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 86555641
 88552536
  1996896
 GRCh38
 Deletion
 No
  pinto_14_ASD_discovery_cases2-case8549_201
 N/A
 M
 ASD
 Autism on ADI-R and ADOS; height and weight normal; front teeth protruding and conspicuous, no other dysmorphic features; astigmatism; fitted with splints for aberrant leg growth and mild deformation of hips at 18 mo; no epilepsy; brain CT at 8 y: mild dilatation of occipital horn of the left ventricle and mild atrophy in that region. Family history: father has reading difficulty and may have social impairment; mother with macular degeneration and mood disorder.
 Average IQ (VIQ 101, PIQ 107, FSIQ 104)
 86555641
 88552536
  1996896
 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
 engchuan_15_ASD_discovery_cases-case8549_201
 
 
 Unknown
 
 
 OR7E13P,OR7E2P,HNRNPCP8,XIAPP2,PSMA2P1,RNU6-1135P,MTCYBP41,MIR3166,GAPDHP70,FZD4,RAB38,CTSC,GRM5-AS1,ME3,PRSS23,TMEM135,GRM5
 
 pinto_14_ASD_discovery_cases2-case8549_201
 qPCR
 
 Paternal
 Unknown
 Unknown (1 healthy sister, not tested)
 OR7E13P,OR7E2P,HNRNPCP8,XIAPP2,PSMA2P1,RNU6-1135P,MTCYBP41,MIR3166,GAPDHP70,FZD4,RAB38,CTSC,GRM5-AS1,ME3,PRSS23,TMEM135,GRM5
 

Controls

No Control Data Available
No Animal Model Data Available
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