先天性肌强直一家系以及散发患者一例的临床、电生理、基因学研究  

Clinical,electrophysiological,and genetic studies of one family and one sporadic patient with congenital myotonia

作　　者：杨华君 赵洪鉴[1] 杨兴隆 YANG Hua-Jun;ZHAO Hong-Jian;YANG Xing-Long(Department of Neurology, Affiliated Hospital & Clinical Medical College of Chengdu University, Chengdu 610081 , China)

机构地区：[1]成都大学附属医院神经内科,四川省成都市610081 [2]昆明医科大学第一附属医院老年神经内科,云南省昆明市650032

出　　处：《国际神经病学神经外科学杂志》2019年第4期364-367,共4页Journal of International Neurology and Neurosurgery

基　　金：云南省卫生单位内设研究机构科研项目(2018NS0102);昆明医科大学第一附属医院博士基金(2017BS005);云南省科技厅—昆明医科大学应用基础研究联合专项面上项目(201801CH00572)

摘　　要：目的探讨先天性肌强直一家系和散发患者一例的临床、电生理、基因学特点。方法对先天性肌强直的一家系和一例散发的患者进行详细的临床资料搜集,对家系先证者以及相关的亲属进行CLCN1和SCN4A基因测序。结果家系中3代共有7例患者,其中5例患者以及一例无症状的家系成员接受了基因检测,结果发现5例患者携带CLCN1A298 T突变。在散发的患者中发现了S723 R错义杂合突变。结论 CLCN1基因A298 T突变是家系中先天性肌强直患者的致病突变,而S723R是否为散发患者的致病突变需要进一步明确。Objective To investigate the clinical,electrophysiological,and genetic features of one family and one sporadic patient with congenital myotonia( MC). Methods Detailed clinical data were collected from pedigree and the sporadic patient with congenital myotonia,and then chloride channel protein 1( CLCN1) and SCN4 A genes were sequenced for the proband and related relatives in pedigree. Results There were 7 patients of 3 generations in pedigree,among whom 5 patients and 1 asymptomatic family member received genetic test,and the results showed that the 5 patients carried CLCN1 A298 T mutation. The S723 R missense heterozygous mutation in CLCN1 was found in the sporadic patients. Conclusions A298 T mutation in the CLCN1 gene is the pathogenic mutation for pedigree,and further studies are needed to clarify whether S723 R is a pathogenic mutation for the sporadic patient.

关 键 词：先天性肌强直 CLCN1基因 SCN4A基因 

分 类 号：R746[医药卫生—神经病学与精神病学]