Mutation analysis of the NRXN1 gene in a Chinese autism cohort

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成果类型：

期刊论文

作者：

Liu, Yalan;Hu, Zhengmao;Xun, Guanglei;Peng, Yu;Lu, Lina;...

通讯作者：

Zhao, Jingping

作者机构：

[Xiong, Zhimin; Liu, Deyuan; Lu, Lina; Xu, Xiaojuan; Peng, Yu; Xia, Kun; Li, Wei; Liu, Yalan; Hu, Zhengmao] Cent S Univ, Sch Biol Sci & Technol, Changsha 410011, Hunan, Peoples R China.

[Xun, Guanglei; Zhao, Jingping] Cent S Univ, Mental Hlth Inst, Xiangya Hosp 2, Changsha 410011, Hunan, Peoples R China.

[Xiong, Zhimin; Liu, Deyuan; Lu, Lina; Xu, Xiaojuan; Peng, Yu; Xia, Kun; Li, Wei; Liu, Yalan; Hu, Zhengmao] Cent S Univ, State Key Lab Med Genet, Changsha 410011, Hunan, Peoples R China.

[Xun, Guanglei] Mental Hlth Ctr Shandong Prov, Jinan, Shandong, Peoples R China.

[Xia, Lu] Cent S Univ Forestry & Technol, Changsha, Hunan, Peoples R China.

通讯机构：

[Zhao, Jingping] C

Cent S Univ, Mental Hlth Inst, Xiangya Hosp 2, 139 Middle Renmin Rd, Changsha 410011, Hunan, Peoples R China.

语种：

英文

关键词：

Association;Autism;Mutation;Neurexin-1

期刊：

Journal of Psychiatric Research

ISSN：

0022-3956

年：

2012

卷：

期：

页码：

630-634

DOI：

10.1016/j.jpsychires.2011.10.015

基金类别：

National Basic Research Program 973 of ChinaNational Basic Research Program of China [2012 CB 517902, 2010 CB 529601]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [30630062]

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本校为其他机构

摘要：

Autism is a brain developmental disorder characterized by impaired social interaction and communication, as well as restricted and repetitive behaviors. The neurexin-1(NRXN1) gene mapped on chromosome 2p16.3 encodes neurexin, a cell adhesion molecule and receptor in the vertebrate nervous system. Rare de novo alterations and copy number variations (CNVs) suggested neurexin-1 as a candidate gene for the pathogenesis of autism, but data on the gene mutation of neurexin-1 in Chinese Han population with autism are limited. By direct sequencing, we analyzed the entire coding regions and associated ...

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Mutation analysis of the NRXN1 gene in a Chinese autism cohort

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