Myotonia congenita: novel mutations in CLCN1 gene
Myotonia congenita: novel mutations in CLCN1 gene
复制标题
先天性肌强直：CLCN1 基因的新突变
DOI：
10.1080/19336950.2015.1075676
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发表时间：
2015-09-03
期刊：
影响因子：
3.3
通讯作者：
Cao, Li
中科院分区：
文献类型：
--
作者：
Liu, Xiao-Li;Huang, Xiao-Jun;Cao, Li
先天性肌强直属于编码人骨骼肌氯通道1的CLCN1基因突变所致的非营养障碍性肌强直，可遗传常染色体显性遗传(Thomsen病)或隐性遗传(Becker病)。在这里，我们对5例无关的先天性肌强直患者的CLCN1基因全部23个外显子和外显子-内含子边界进行了测序(2例为显性形式，3例为隐性形式)。此外，对这些患者进行了详细的临床分析，以总结他们的临床特征与他们的基因类型的关系。突变分析发现了7个不同的点突变。其中，我们发现了3个新突变，包括2个错义突变(R47W，V229M)，1个剪接突变(IVS19+2T>；C)，以及4个已知突变(Y261C，G523D，M560T，G859D)。我们的数据扩大了CLCN1突变的范围，并为中国人群先天性肌强直症的基因-表型相关性提供了见解。
Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms. Here we have sequenced all 23 exons and exon-intron boundaries of the CLCN1 gene, in a panel of 5 unrelated Chinese patients with myotonia congenita (2 with dominant and 3 with recessive form). In addition, detailed clinical analysis was performed in these patients to summarize their clinical characteristics in relation to their genotypes. Mutational analyses revealed 7 different point mutations. Of these, we have found 3 novel mutations including 2 missense (R47W, V229M), one splicing (IVS19+2T>C), and 4 known mutations (Y261C,G523D, M560T, G859D). Our data expand the spectrum of CLCN1 mutations and provide insights for genotype–phenotype correlations of myotonia congenita in the Chinese population.