Chen Guo-Hong
Department of Neurology, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, P.R. China.
Exp Ther Med. 2015 Mar;9(3):909-912. doi: 10.3892/etm.2014.2155. Epub 2014 Dec 22.
Paroxysmal kinesigenic dyskinesia (PKD) is an autosomal dominant disorder and PRRT2 is the causative gene of PKD. The aim of this study was to investigate PRRT2 mutations in patients who were clinically diagnosed with PKD. Nine PKD cases, including four familial cases and five sporadic cases, were selected. Peripheral blood was drawn after obtaining informed consent, and genomic DNA was extracted by a standard protocol. Sanger sequencing was performed for the screening of PRRT2 mutations. A total of five cases were detected to harbor PRRT2 mutations. Four familial cases carried a c.649dupC (p.Arg217Profs8) mutation, while one sporadic case and his asymptomatic father carried a c.133-136delCCAG (p.Pro45Argfs44) mutation. PRRT2 mutations were not identified in the remaining cases. The study further confirmed that PRRT2 was a causative gene of PKD and implied that PRRT2 mutation has incomplete penetrance.
发作性运动诱发性运动障碍（PKD）是一种常染色体显性疾病，PRRT2是PKD的致病基因。本研究旨在调查临床诊断为PKD的患者中的PRRT2突变情况。选取了9例PKD病例，包括4例家族性病例和5例散发性病例。在获得知情同意后采集外周血，并通过标准方案提取基因组DNA。采用桑格测序法筛查PRRT2突变。共检测到5例携带PRRT2突变。4例家族性病例携带c.649dupC（p.Arg217Profs8）突变，而1例散发性病例及其无症状父亲携带c.133 - 136delCCAG（p.Pro45Argfs44）突变。其余病例未发现PRRT2突变。该研究进一步证实PRRT2是PKD的致病基因，并提示PRRT2突变具有不完全外显率。
