Department of Neurology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Neurol India. 2010 Sep-Oct;58(5):743-6. doi: 10.4103/0028-3886.72163.
Myotonia congenita (MC) is a genetic disease characterized by mutations in the muscle chloride channel gene (CLCN1). To date, approximately 130 different mutations on the CLCN1 gene have been identified. However, most of the studies have focused on Caucasians, and reports on CLCN1 mutations in Chinese population are rare. This study investigated the mutation of CLCN1 in two Chinese families with MC. Direct sequencing of the CLCN1 gene revealed a heterozygous mutation (892G>A, resulting in A298T) in one family and a compound heterozygous mutations (782A>G, resulting in Y261C; 1679T>C, resulting in M560T) in the other family, None of the 100 normal controls had these mutations. Our findings add more to the available information on the CLCN1 mutation spectrum, and provide a valuable reference for studying the mutation types and inheritance pattern of CLCN1 in the Chinese population.
先天性肌强直症（MC）是一种以肌肉氯离子通道基因（CLCN1）突变为特征的遗传性疾病。迄今为止，已经在 CLCN1 基因上鉴定出大约 130 种不同的突变。然而，大多数研究都集中在白种人身上，关于中国人 CLCN1 突变的报道很少。本研究调查了两个先天性肌强直症中国家系 CLCN1 的突变。CLCN1 基因的直接测序显示一个家系存在杂合突变（892G>A，导致 A298T），另一个家系存在复合杂合突变（782A>G，导致 Y261C；1679T>C，导致 M560T），100 名正常对照者均无这些突变。我们的发现为 CLCN1 突变谱提供了更多的信息，为研究中国人 CLCN1 的突变类型和遗传模式提供了有价值的参考。
