二例先天性肌强直的CLCN1基因突变研究  

Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita

作　　者：陈枝挺[1] 何瑾[2] 陈万金[2] 陈圣根[1] 林际岚[1] 叶钦勇[1] 黄华品[1] 

机构地区：[1]福建医科大学附属协和医院神经内科,福州350001 [2]福建医科大学附属协和医院附属第一医院神经内科,福州350001

出　　处：《中华医学遗传学杂志》2012年第6期690-692,共3页Chinese Journal of Medical Genetics

摘　　要：目的探讨2例先天性肌强直患者的氯离子通道蛋白-1（chloride channel2，CLCN1）基因突变情况和临床特点。方法收集福建地区1个先天性肌强直家系的先证者和1例散发性先天性肌强直患者的临床资料并进行综合分析。用PCR扩增患者cLCN1基因的全部外显子，通过直接测序检测突变的情况。结果家系1先证者的CLCN1基因第8外显子存在C．1024G〉A的杂合性错义突变，散发性患者的CLCN1基因第11外显子发现了c．1292C〉T的杂合性错义突变。结论先天性肌强直症临床表现缺乏特异性，CLCN1基因突变检测是确诊该病的有效方法。Objective To investigate chloride channel 1 （CLCN1）gene mutation and clinical features of 2 Chinese patients with myotonia congenita. Methods Clinical data of a patient from a family affected with myotonia congenita in addition with a sporadic patient from Fujian province were analyzed. Exons of CLCN1 gene were amplified and sequenced. Results The proband from the affected family was found to carry a c. 1024G〉A heterozygous missense mutation in exon 8, whilst the sporadic patient has carried a c. 1292C〉T heterozygous missense mutation in exon 11. Conclusion Detection ofCLCN1 gene mutation is an effective method for the diagnosis of myotonia congenita. Exon 8 of CLCN1 gene may be a mutational hotspot in Chinese patients with myotonia congenita.

关 键 词：氯离子通道蛋白-1基因 先天性肌强直 突变 

分 类 号：R746[医药卫生—神经病学与精神病学]