9p21.1-p13.3CNV Type: Duplication
Largest CNV size: 179590 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
1892853
0
1
1
van_der_zwaag_09_ASD_discovery_cases
Samples and phenotypic data from ASD patients, Dept. of Child & Adolescent Psychiatry, UMC Utrcht
105
53 cases diagnosed with non-complex autism, 52 diagnosed with complex autism
179590
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
van_der_zwaag_09_ASD_discovery_controls
Ethnically matched, unrelated, healthy volunteers recruited by Dept. of Neurology, UMC Utrecht
267
Controls
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
van_der_zwaag_09_ASD_discovery_cases
Dutch
Solid phase hybridization
HumanHap300 Beadchip
BeadStudio genotyping V2.3.41
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
van_der_zwaag_09_ASD_discovery_controls
Dutch
Solid phase hybridization
HumanHap300 Beadchip
BeadStudio genotyping V2.3.41
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
han_22_ASD/DD/ID_discovery_cases-case16D1672
6 yrs. 1 mo.
F
Developmental delay/Intellectual disability
Speech delay
31873012
33765864
1892853
GRCh38
Duplication
No
van_der_zwaag_09_ASD_discovery_cases-subject104-003
NA
M
Non-complex autism
NA
NA
33082835
33262424
179590
Unknown
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
han_22_ASD/DD/ID_discovery_cases-case16D1672
De novo
AQP7,ACO1,BAG1,AQP3,ANXA2P2,SPINK4,TRBV23OR9-2,CHMP5,APTX,SMU1,NOL6,TAF1L,DNAJA1,B4GALT1,TRBV26OR9-2,TRBV22OR9-2,SLC25A5P8,ASS1P12,TMEM215,SUGT1P1,ANKRD18B,LAGE3P1,SMIM27,NDUFB6,NFX1,SNRPCP1,SNX18P7,TCEA1P4,DFFBP1,RNA5SP281,PTENP1-AS,PRSS3,LINC01251,B4GALT1-AS1,MIR6851,CYP4F26P,TRBV21OR9-2,TRBV25OR9-2,TRBV24OR9-2,TRBV20OR9-2,BOLA3P4,RNU4ATAC15P,PRSS3P4,TOPORS,PTENP1,DDX58
van_der_zwaag_09_ASD_discovery_cases-subject104-003
qPCR
Maternal
NA
NA
B4GALT1, SPINK4, BAG1, CHMP5
Controls
No Control Data Available
No Animal Model Data Available