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Title: Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
Author: Chen, Wan-Jin ; Lin, Yu ; null(熊志奇) ; Wei, Wei ; Ni, Wang ; Tan, Guo-He ; Guo, Shun-Ling ; He, Jin ; Chen, Ya-Fang ; Zhang, Qi-Jie ; Li, Hong-Fu ; Lin, Yi ; Murong, Shen-Xing ; Xu, Jianfeng ; Wang, Ning ; Wu, Zhi-Ying
Source: NATURE GENETICS
Issued Date: 2011
Volume: 43, Issue:12, Pages:1252-U116
Keyword: HUMAN-CHROMOSOME 16 ; CHOREOATHETOSIS ; DISORDERS ; LINKAGE ; LOCUS ; CHANNELOPATHIES ; GENES ; MAPS
Subject: Genetics & Heredity
Corresponding Author: Wu, ZY (reprint author), Fudan Univ, Inst Brain Sci, Huashan Hosp, Dept Neurol, Shanghai 200433, Peoples R China,ningwang63@yahoo.com ; zhiyingwu@fudan.edu.cn
English Abstract: Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder and is often misdiagnosed clinically as epilepsy. Using whole-exome sequencing followed by Sanger sequencing, we identified three truncating mutations within PRRT2 (NM_145239.2) in eight Han Chinese families with histories of paroxysmal kinesigenic dyskinesia: c.514_517delTCTG (p.Ser172Argfs*3) in one family, c.649dupC (p.Arg217Profs*8) in six families and c.972delA (p.Val325Serfs*12) in one family. These truncating mutations co-segregated exactly with the disease in these families and were not observed in 1,000 control subjects of matched ancestry. PRRT2 is a newly discovered gene consisting of four exons encoding the proline-rich transmembrane protein 2, which encompasses 340 amino acids and contains two predicted transmembrane domains. PRRT2 is highly expressed in the developing nervous system, and a truncating mutation alters the subcellular localization of the PRRT2 protein. The function of PRRT2 and its role in paroxysmal kinesigenic dyskinesia should be further investigated.
Indexed Type: sci
Language: 英语
Content Type: 期刊论文
URI: http://ir.sibs.ac.cn/handle/331001/1519
Appears in Collections:神经所(总)_期刊论文
疾病神经生物学研究组_期刊论文

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Chen, Wan-Jin; Lin, Yu; Xiong, Zhi-Qi; Wei, Wei; Ni, Wang; Tan, Guo-He; Guo, Shun-Ling; He, Jin; Chen, Ya-Fang; Zhang, Qi-Jie; Li, Hong-Fu; Lin, Yi; Murong, Shen-Xing; Xu, Jianfeng; Wang, Ning; Wu, Zhi-Ying.Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia,NATURE GENETICS,2011,43(12):1252-U116
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