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首页> 外文期刊>Journal of International Medical Research >Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing
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Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing

机译：用全外exome测序，鉴定大型中国家庭中的<斜视> SCN4A 突变

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Objectives Normokalemic periodic paralysis (NormoKPP) of skeletal muscle is an autosomal dominant disorder caused by mutations in the gene encoding voltage-gated sodium channel protein type 4 subunit alpha ( SCN4A ), which leads to ion channel dysfunction. Little is known about the relationship between genotype and the clinical symptoms of NormoKPP. The present study aimed to evaluate the genetic variation in a large Chinese family with NormoKPP. The patients in this pedigree did not respond to saline treatment, but calcium gluconate treatment was effective. Methods We performed a series of clinical examinations and genetic analyses, using whole-exome and Sanger sequencing, to examine the mutation status of SCN4A in a Chinese family segregating for NormoKPP. Results Whole-exome sequencing revealed a c.2111C&T substitution in SCN4A in most of the affected family members. This mutation results in the amino acid substitution p.T704M. Conclusions These results support a causative role of this mutation in SCN4A in NormoKPP, and provide information about the relationship between genotype and atypical clinical symptoms.
机译：骨骼肌的目标常见瘫痪（normokpp）是由编码电压门控钠通道蛋白类型4亚基α（SCN4a）的基因突变引起的常染色体显性障碍，这导致离子通道功能障碍。关于基因型与Normokpp的临床症状的关系很少。本研究旨在评估常规中国大型家庭的遗传变异。该血统患者没有响应盐水处理，但葡萄糖酸钙处理是有效的。方法我们进行了一系列临床检查和遗传分析，采用全外销和桑切尔测序，检查SCN4A在中国家庭对Normokpp中的突变状态。结果全外膜测序揭示了在大多数受影响的家庭成员中SCN4A的C.2111C＆GT;该突变导致氨基酸取代p.t704m。结论这些结果支持该突变在正常的SCN4A中的致病作用，并提供有关基因型与非典型临床症状之间关系的信息。

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