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13q14.3-q21.31CNV Type: Deletion


Largest CNV size: 10256660 bp

Statistics Box:
Number of Reports: 1



Summary Information

This singleton CNV was identified in a male ASD patient and demonstrated the autism risk-conferring potential of the DIAPH3 gene.

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
A double hit implicates DIAPH3 as an autism risk gene.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 vorstman_10_ASD_discovery_cases
 Male ASD proband (referred to child psychiatry outpatient clinic at University Medical Center Utrecht, the Netherlands, at 12 yrs.)
 1
 ASD (DSM-IV diagnostic criteria)
 13
 Male
 10256660
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 vorstman_10_ASD_discovery_cases
  Dutch
 FISH
 
 
 
 Solid phase hybridization (Illumina 550K)

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
  vorstman_10_ASD_discovery_cases-proband
 13
 M
 ASD
 Fulfilled DSM-IV diagnostic criteria for ASD (clinical consensus & ADI-R/ADOS-G results); problems with attention span & increased impulsivity (did not meet criteria for ADHD); small stature, normal weight & head circumference; mild dysmorphic features; hypermetropic vision in both eyes; mild lumbar lordosis & small difference in leg length; normal EEG and MRI. Proband also has point mutation in DIAPH3 gene on paternal chromosome.
 Normal cognitive abilities (full IQ=98; verbal IQ=93; performance IQ=105)
 52805428
 63062087
  10256660
 NCBI35/hg17
 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
 vorstman_10_ASD_discovery_cases-proband
 Solid phase hybridization (Illumina 550K)
 
 Maternal
 NA
 NA
 PCDH17, DIAPH3, TDRD3, PCDH20
 

Controls

No Control Data Available
No Animal Model Data Available
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