先天性肌强直一家系的临床与基因分析  

Clinical and genetic analysis for a family with myotonia congenita of CLCN1 gene mutations

作　　者：曹小丽[1] 覃秋燕 黄文[1] CAO Xiaoli;QIN Qiuyan;HUANG Wen(The First Affiliated Hospital,Guangxi Medical University,Nanning 530021,China)

机构地区：[1]广西医科大学第一附属医院,广西南宁530021

出　　处：《中国实用神经疾病杂志》2020年第23期2112-2116,共5页Chinese Journal of Practical Nervous Diseases

基　　金：广西青年基金项目(编号:2017GXNSFBA198067)。

摘　　要：目的分析一个疑似先天性肌强直家系的临床表现、电生理及致病基因突变,为提高该病诊断能力提供方法。方法观察2019-01就诊于广西医科大学第一附属医院的先天性肌强直先证者的临床特点、实验室检查,提取研究对象基因组DNA进行高通量全外显子测序,确定可能的致病基因并结合家系分析和对照组检测结果,评估治疗效果及预后。结果先证者为24岁男性,其家族中父亲、姑姑及大姐均有类似表现,先证者及家族中患病者CLCN1基因14号外显子区域存在c1879A>C突变,健康家族成员及建康对照组则均未携带该突变,该突变导致编码氨基酸由苏氨酸突变为脯氨酸(p.T627P)。予小剂量美西律治疗,随访半年后症状有所改善。结论CLCN1基因突变临床表型变异大,在该家系中发现的新突变c1879A>C为先天性肌强直发病机制研究提供了新的资料。Objective To investigate chloride channel l(CLCNI)gene mutation and clinical features of a Chinese family with myotonia congenita.Methods Clinical data from a family affected with myotonia congenita was analyzed.High-throughput sequencing was applied to explore possible mutations,and then the other family members was confirmed with Sanger amplified and sequenced.Results 4 patients from the affected family was found to carry a c.1879 A>C heterozygous missense mutation in exon 14.Conclusion Detection of CLCN1 gene mutation is an effective method for the diagnosis of myotonia congenita.Exon 14 of CLCNl gene may be a mutational hotspot in Chinese patients with myotonia congenita.

关 键 词：先天性肌强直 CLCN1基因 致病突变 临床表型 高通量测序 

分 类 号：R746[医药卫生—神经病学与精神病学]