SCN4A基因G515R新突变致正常钾和低钾性周期性瘫痪一家系报告  

Both hypokalemic and normokalemic periodic paralysis in different members of a single family with novel G515R mutation in SCN4A gene

作　　者：常明则 田晔[1] 黄昱[2] 王新来[1] 狄政莉[1] 张卫萍[1] 张琳[1] 毛佳[1] 秦爱菊 陈惠玲[1] 

机构地区：[1]西安市中心医院神经内科,710003 [2]北京大学医学部医学遗传学系,100083 [3]西安市神经疾病研究室,710003

出　　处：《中国神经免疫学和神经病学杂志》2013年第6期411-414,共4页Chinese Journal of Neuroimmunology and Neurology

基　　金：陕西省自然科学基金资助项目(NO.2005C225)

摘　　要：目的 分析SCN4A基因新突变导致的正常钾和低钾性周期性瘫痪共存一家系临床特点.方法 对一家系所有患者的临床资料进行详细分析,并应用DNA序列分析方法检测其中包括先证者在内的3例患者SCN4A基因24个外显子的突变情况.结果 本家系为常染色体显性遗传,共有5例患者,其中男3例、女2例,发病年龄9～34岁.1例患者为正常钾性周期性瘫痪,3例患者为低钾性周期性瘫痪,1例发作时血钾水平不详;3例患者均存在SCN4A基因G515R突变.结论 SCN4A基因G515R新突变在同一家系内可导致低血钾性和正常血钾性周期性瘫痪共存.Objective To investigate the clinical feature of periodic paralysis in a family associated with a novel mutation in the skeletal muscle sodium channel Ⅱ subunit （SCN4A） gene.Methods All family members were studied through clinical examinations.Mutation analysis of 24 exons of the SCN4A gene was screened by DNA sequence analysis in 3 patients including the proband of the family.Results Five patients in a family presented with periodic paralysis in an inheritance pattern of autosomal dominant.Except 1 patient with unknown blood potassium level during weakness attacks,3 affected individuals had hypokalemic periodic paralysis and 1 showed normokalemic periodic paralysis.Genetic analysis revealed novel heterozygous missense mutation G 1543A in exon 10 of SCN4A gene.The mutation substituted a glycine for an arginine at the amino acid site 515 （G515R）.The 1543 G→A mutation had not been reported previously.Conclusions The pedigree was caused by the novel SCN4A mutation at codon G515R.Normokalemic and hypokalemic periodic paralysis can occur in different affected family members.

关 键 词：麻痹 家族周期性 低钾性周期性麻痹 骨骼肌钠通道α1亚基 突变 病例报告 

分 类 号：R746.3[医药卫生—神经病学与精神病学]