title: A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia.
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.
authors: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Mohammad
authors: M
authors: Miryounesi
authors: Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Soudeh
authors: S
authors: Ghafouri-Fard
authors: Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Majid
authors: M
authors: Fardaei
keywords: CLCN1 protein; Mutation; Myotonia congenita