A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

Mohammad Miryounesi Md PhD; Soudeh Ghafouri-Fard Md PhD; Majid Fardaei PhD

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

Iran J Med Sci. 2016 Sep;41(5):456-8.

Authors

Mohammad Miryounesi Md PhD¹, Soudeh Ghafouri-Fard Md PhD², Majid Fardaei PhD³

Affiliations

¹ Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
² Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
³ Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.

PMID: 27582597
PMCID: PMC4967492

Abstract

Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which started in early childhood. We analyzed CLCN1 sequence in this patient and other members of his family. We found a new missense mutation in CLCN1 gene (c.1886T>C, p.Leu629Pro). Co-segregation of this mutation with the disease was demonstrated by direct sequencing of the fragment in affected as well as unaffected members of this family. In addition, in silico analyses predicted that this nucleotide change would impair the protein function. Thus, this new nucleotide variation can be used for prenatal diagnosis in this family.

Keywords: CLCN1 protein; Mutation; Myotonia congenita.

Publication types

Case Reports