[Analysis of de novo copy number variations in a family affected with autism spectrum disorders using high-resolution array-based comparative genomic hybridization].
OBJECTIVE
To analyze de novo copy number variations (CNVs) in a Chinese family affected with autism spectrum disorders (ASD).


METHODS
Affymetrix Cytogenetics Whole Genome 2.7M Array assay was performed to identify potential CNVs in four members from the family.


RESULTS
A total of 89 de novo CNV regions were identified in the autistic siblings. The CNV regions in total have exceeded 1/1000 of the lengths of chromosomes 5, 11 and 14. In addition, de novo CNV regions were also identified at 3p26.1, 4q22.2, and 5p15.2, which encompassed 10 genes associated with nerve development including GRM7, GRID2 and CTNND2.


CONCLUSIONS
A number of nerve development associated genes were at the de novo CNV sites, which may provide new clues for genetic research of ASD. High-resolution array-comparative genomic hybridization is an effective method for detecting submicroscopic chromosomal imbalances.
Experimental Department of Institute of Obstetrics and Gynecology, the Third Affiliated Hospital of Guangzhou Medical University, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Guangzhou Key Laboratory of Reproductive Medicine and Genetics, Guangzhou, Guangdong 510150, P.R. China.
Wen-zhi
WZ
He
Wei-qiang
WQ
Liu
Xin-qi
XQ
Zhong
Xiao-lin
XL
Chen
Shao-ying
SY
Li
Hui-min
HM
Zhang
Qing
Q
Li
Qi-liang
QL
Cui
Xiao-fang
XF
Sun
D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization / Q000379:methods; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D008297:Male