PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia

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	PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia
	Li, HF ; Ni, W ; Xiong, ZQ ; Xu, JF ; Wu, ZY
刊名	CNS NEUROSCIENCE & THERAPEUTICS
	2013
卷号	19 期号:1 页码:61-65
关键词	FAMILIAL INFANTILE CONVULSIONS CHOREOATHETOSIS SYNDROME
ISSN号	1755-5930
通讯作者	Wu, ZY (reprint author), Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China.,zhiyingwu@fudan.edu.cn
英文摘要	Aims PRRT2 was recently identified as a causative gene for paroxysmal kinesigenic dyskinesia (PKD), and the c.649dupC mutation was shown to be a high frequency mutation. This mutation was also identified in many sporadic cases. This might be attributed to the incomplete penetrance of c.649dupC. Alternatively, c.649dupC might derive from de novo. The aim of this study is to elucidate the possibility concerning de novo mutagenesis of PRRT2 mutations in PKD. Methods Nine sporadic Chinese PKD patients including one Mongolian patient were recruited. Direct sequencing of PRRT2 was performed in them and their parents. Haplotype analysis was conducted to confirm the biological relationship. Results A novel mutation, c.133_136delCCAG, was identified in one Han patient and his unaffected mother. The c.649dupC mutation was detected in another Han patient and his unaffected father. To our interest, c.649dupC was detected in the Mongolian patient but not in his parents. Haplotype analysis confirmed the biological relationship among the trio. No mutations were identified in the remaining six patients. Conclusion These findings demonstrate the heterogeneity of PKD, and the de novo mutagenesis of PRRT2 gene might indicate the genetic instability of this region.
学科主题	Neurosciences & Neurology ; Pharmacology & Pharmacy
收录类别	SCI
资助信息	National Natural Science Foundation of China, Beijing [81125009]; Program for Outstanding Academic Leader of Shanghai [12XD1406000]; State Key Laboratory of Neuroscience [SKLN - 201205]
语种	英语
公开日期	2013-06-04
内容类型	期刊论文
源URL	[http://ir.sibs.ac.cn/handle/331001/2525]
专题	上海神经科学研究所_神经所(总)
推荐引用方式 GB/T 7714	Li, HF,Ni, W,Xiong, ZQ,et al. PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia[J]. CNS NEUROSCIENCE & THERAPEUTICS,2013,19(1):61-65.
APA	Li, HF,Ni, W,Xiong, ZQ,Xu, JF,&Wu, ZY.(2013).PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia.CNS NEUROSCIENCE & THERAPEUTICS,19(1),61-65.
MLA	Li, HF,et al."PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia".CNS NEUROSCIENCE & THERAPEUTICS 19.1(2013):61-65.