title: Disruption of Contactin 4 in two subjects with autism in Chinese population.
abstract: Autism is a heterogeneous childhood neurodevelopmental disorder that is characterised by deficits in verbal communication, impaired social interactions, restricted interests and repetitive behaviours. Using an Illumina HumanCNV370-Quad BeadChip, we identified two Han Chinese individuals with autism and large duplications (~1.6 Mb and ~2.4 Mb) disrupting the same CNTN4 gene. CNTN4 encodes a protein that functions as a cell-adhesion molecule and may play an essential role in the formation of axon connections in the developing nervous system. The disruption of this gene has been reported to be the cause of the 3p deletion syndrome and also a possible susceptibility factor for autism spectrum disorders (ASDs). Our results suggest that rare copy number variations (CNVs) in CNTN4 may also influence autism susceptibility in Asian populations. Interestingly, a comparison of the clinical phenotypes between the two subjects revealed that the subject with the 2.4 Mb CNV (involving several other genes) presented with a more severe phenotype than the subject with the 1.6 Mb CNV (disrupting only CNTN4 and CNTN6). This suggests that other genes in the nearby region may contribute to the pathogenesis.
authors: State Key Laboratory of Medical Genetics, Central South University, Changsha, China.
authors: Hui
authors: H
authors: Guo
authors: Guanglei
authors: G
authors: Xun
authors: Yu
authors: Y
authors: Peng
authors: Xinying
authors: X
authors: Xiang
authors: Zhimin
authors: Z
authors: Xiong
authors: Lusi
authors: L
authors: Zhang
authors: Yiqun
authors: Y
authors: He
authors: Xiaojuan
authors: X
authors: Xu
authors: Yalan
authors: Y
authors: Liu
authors: Lina
authors: L
authors: Lu
authors: Zhigao
authors: Z
authors: Long
authors: Qian
authors: Q
authors: Pan
authors: Zhengmao
authors: Z
authors: Hu
authors: Jingping
authors: J
authors: Zhao
authors: Kun
authors: K
authors: Xia
mesh_terms: D044466:Asian People / Q000235:genetics; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D058966:Contactins / Q000235:genetics*; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D012720:Severity of Illness Index
chemical_list: C098304:CNTN4 protein, human; C111104:CNTN6 protein, human; D058966:Contactins