Analysis of CLCN1 gene mutations in a family affected with myotonia congenita / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutations of chloride channel l (CLCN1) gene in a family affected with myotonia congenita.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>