13q14.3-q21.31CNV Type: Deletion
Largest CNV size: 10256660 bp
Statistics Box:
Number of Reports: 1
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
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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
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)
53333292
63589953
10256662
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
vorstman_10_ASD_discovery_cases-proband
Solid phase hybridization (Illumina 550K)
Maternal
NA
NA
ZNF646P1,MIR1297,RPL13AP25,MIR5007,HNF4GP1,SPATA2P1,RN7SKP6,PRR20A,PRR20B,PRR20D,PRR20E,PRR20FP,MTCO2P3,SLC25A5P4,RPL31P53,RNA5SP30,RNY4P29,CTAGE16P,DNAJA1P1,HMGN2P39,POLR3KP1,RPP40P2,RNU7-88P,RN7SL375P,RNY4P28,LINC00434,TARDBPP2,RNA5SP31,RNY3P5,MIR3169,PCDH20,LINC02339,RAC1P8,LINC01074,RPL32P28,LINC02335,LINC00374,DIAPH3-AS2,EIF4A1P6,LINC01442,LINC00358,LINC01075,LINC00459,SQSTM1P1,LINC00448,LINC00558,LINC00458,PRR20C,LINC02338,DIAPH3-AS1,TDRD3,LINC00378,LINC00376,PCDH17,DIAPH3
Controls
No Control Data Available
No Animal Model Data Available