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目的筛查低钾性周期性麻痹相关基因突变位点,总结该病基因型和临床表型的相关性。方法应用PCR和DNA测序技术,对2个低钾性周期性麻痹家系进行候选基因CACNA1S和SCN4A的筛查,并总结患者的临床特点。结果DNA测序发现2个家系5例患者在SCN4A基因12外显子上存在2015G→A突变引起R672H改变。家系A另外4人也携带此突变但未发病,其中3例女性,1例男性。家系B先证者母亲存在相同突变。R672H突变特征:钾剂治疗有效,乙酰唑胺治疗无效;外显率不全,女性突变基因携带者均未发病。结论中国家族性低钾性周期性麻痹存在SCN4A基因R672H突变。
Objective To screen the mutation sites related to hypokalemic periodic paralysis and summarize the correlation between the genotype and clinical phenotype of the disease. Methods PCR and DNA sequencing techniques were used to screen the candidate genes CACNA1S and SCN4A in two hypokalemic periodic paralysis pedigrees and to summarize the clinical features of the patients. Results DNA sequencing found that there was a 2015G → A mutation in SCN4A gene exon 12 in 5 patients from two families and caused a change of R672H. Another 4 people in family A also carried this mutation but did not. Three were women and one was male. Family B proband mother has the same mutation. R672H mutation characteristics: effective potassium treatment, acetazolamide treatment ineffective; penetrance was incomplete, the female mutant gene carriers were not disease. Conclusion There is a R672H mutation in SCN4A gene in Chinese familial hypokalemic periodic paralysis.