Copy Number Variants / 13q14.3-q21.31

13q14.3-q21.31

Type
Deletion
Average Length
10256660
Range
52805428-63062087
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

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

Reports related to 13q14.3-q21.31 (1 Reports)
# Type Title Author, Year
1 Major A double hit implicates DIAPH3 as an autism risk gene. Vorstman JA , et al. (2010)
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13q14.3-q21.31

Description:

Male ASD proband (referred to child psychiatry outpatient clinic at University Medical Center Utrecht, the Netherlands, at 12 yrs.)

Diagnosis:

ASD (DSM-IV diagnostic criteria)

Vorstman JA , et al. (2010)
Cohort Size: 1

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 10256660

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
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vorstman_10_ASD_discovery_cases-proband

Clinical Profile:

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.

Cognitive Profile:

Normal cognitive abilities (full IQ=98; verbal IQ=93; performance IQ=105)

Vorstman JA , et al. (2010)
Primary Diagnosis: ASD

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 52805428
CNV End: 63062087
CNV Size: 10256660
Validation Description: Solid phase hybridization (Illumina 550K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: NCBI35/hg17
Gene Content: PCDH17, DIAPH3, TDRD3, PCDH20
Show all Control Details Show all Cohort Details

No control populations reported.

Show all Control Details Show all Cohort Details

No control individuals reported.

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