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[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita]
Feng Jing1, Haijiang Li, Dan Yang
1Department of Neurology, the First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China. dr_taochen@yahoo.com.
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.
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