先天性肌强直一家系CLCN1基因突变分析
[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita].
作者信息
Jing Feng, Li Haijiang, Yang Dan, Chen Tao, Liu Yuexian, Yu Lidan
机构信息
Department of Neurology, the First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):400-402. doi: 10.3760/cma.j.issn.1003-9406.2018.03.021.
OBJECTIVE
To detect potential mutations of chloride channel l (CLCN1) gene in a family affected with myotonia congenita.
METHODS
Clinical data of the proband and her parents and brother was collected. The coding regions of the CLCN1 gene were subjected to PCR and Sanger sequencing.
RESULTS
Two missense mutations (c.937G>A and c.1205C>T), which were respectively located within exons 8 and 11 of the CLCN1 gene, were identified in the proband. The mother and father of the proband were found to harbor the c.937G>A and c.1205C>T mutation, respectively, whilst neither mutation was found in her brother.
CONCLUSION
The novel missense CLCN1 mutations probably underlie the disease in this family. These have enriched the spectrum of CLCN1 mutations and may facilitate further research on this disorder.
目的
检测一个先天性肌强直家系中氯离子通道1（CLCN1）基因的潜在突变。
方法
收集先证者及其父母和兄弟的临床资料。对CLCN1基因的编码区进行聚合酶链反应（PCR）和桑格测序。
结果
在先证者中鉴定出两个错义突变（c.937G>A和c.1205C>T），分别位于CLCN1基因的第8外显子和第11外显子内。先证者的母亲和父亲分别携带c.937G>A和c.1205C>T突变，而其兄弟未发现这两种突变。
结论
新发现的CLCN1错义突变可能是该家系疾病的病因。这些突变丰富了CLCN1突变谱，可能有助于对该疾病的进一步研究。
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