Iranian Journal of Medical Sciences
Iranian Journal of Medical Sciences

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

Document Type : Case Report(s)

Authors

Mohammad Miryounesi 1
Soudeh Ghafouri-Fard 2
Majid Fardaei 3

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

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

Myotonia congenita
CLCN1 protein
Mutation
Iranian Journal of Medical Sciences
Volume 41, Issue 5 - Serial Number 5
80
September 2016
Pages 456-458

  • Received 30 November 2014
  • Accepted 24 December 2018

Home

Guide for Authors

Submit Manuscript

Guide for Reviewers

Forms

News

Contact Us

FAQ

Suggestion and Complain