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首页> 外文期刊>CNS neuroscience & therapeutics. >i PRRT 2/i c.649dup C Mutation Derived from iDe Novo/i in Paroxysmal Kinesigenic Dyskinesia
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i PRRT 2/i c.649dup C Mutation Derived from iDe Novo/i in Paroxysmal Kinesigenic Dyskinesia

机译：PRRT 2 c.649dup C突变来自 De Novo 在阵发性人源性运动障碍中

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Summary Aims PRRT 2 was recently identified as a causative gene for paroxysmal kinesigenic dyskinesia ( PKD ), and the c.649dup C 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.649dup C . Alternatively, c.649dup C might derive from de novo . The aim of this study is to elucidate the possibility concerning de novo mutagenesis of PRRT 2 mutations in PKD . Methods Nine sporadic C hinese PKD patients including one M ongolian patient were recruited. Direct sequencing of PRRT 2 was performed in them and their parents. Haplotype analysis was conducted to confirm the biological relationship. Results A novel mutation, c.133_136del CCAG , was identified in one H an patient and his unaffected mother. The c.649dup C mutation was detected in another H an patient and his unaffected father. To our interest, c.649dup C was detected in the M ongolian 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 PRRT 2 gene might indicate the genetic instability of this region.
机译：总结目标PRRT 2最近被确定为阵发性运动发生性运动障碍（PKD）的致病基因，而c​​.649dup C突变被证明是“高频”突变。在许多零星病例中也发现了这种突变。这可能归因于c.649dup C的不完全渗透。或者，c.649dup C可能从头衍生。本研究的目的是阐明PKD中PRRT 2突变从头诱变的可能性。方法招募9例散发的中国PKD患者，其中1例为蒙古族患者。在他们及其父母中进行了PRRT 2的直接测序。进行单倍型分析以确认生物学关系。结果在一名患者及其未受影响的母亲中鉴定出一个新的突变体c.133_136del CCAG。在另一名患者及其未受影响的父亲中检测到c.649dup C突变。我们感兴趣的是，在蒙古患者中检测到c.649dup C，但在其父母中未检测到c.649dupC。单倍型分析证实了三者之间的生物学关系。在其余六名患者中未发现突变。结论这些发现证明了PKD的异质性，PRRT 2基因的从头诱变可能表明该区域的遗传不稳定。

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