Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

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	Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
	Xiong, Zhi-Qi
刊名	NATURE GENETICS
	2011
卷号	43 期号:12 页码:1252-U116
关键词	HUMAN-CHROMOSOME 16 CHOREOATHETOSIS DISORDERS LINKAGE LOCUS CHANNELOPATHIES GENES MAPS
ISSN号	1061-4036
通讯作者	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
英文摘要	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.Ser172Argfs3) in one family, c.649dupC (p.Arg217Profs8) 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.
学科主题	Genetics & Heredity
收录类别	SCI
资助信息	National Natural Science Foundation (China)[81125009]; Huashan Hospital; Fudan University; Fujian Medical University[2009D064]
语种	英语
公开日期	2012-07-13
内容类型	期刊论文
源URL	[http://ir.sibs.ac.cn/handle/331001/1519]
专题	上海神经科学研究所_神经所(总) 上海神经科学研究所_疾病神经生物学研究组
推荐引用方式 GB/T 7714	Xiong, Zhi-Qi. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia[J]. NATURE GENETICS,2011,43(12):1252-U116.
APA	Xiong, Zhi-Qi.(2011).Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.NATURE GENETICS,43(12),1252-U116.
MLA	Xiong, Zhi-Qi."Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia".NATURE GENETICS 43.12(2011):1252-U116.