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Miryounesi, Mohammad, Ghafouri-Fard, Soudeh, Fardaei, Majid. (1395). A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia. سامانه مدیریت نشریات علمی, 41(5), 456-458.
Mohammad Miryounesi; Soudeh Ghafouri-Fard; Majid Fardaei. "A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia". سامانه مدیریت نشریات علمی, 41, 5, 1395, 456-458.
Miryounesi, Mohammad, Ghafouri-Fard, Soudeh, Fardaei, Majid. (1395). 'A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia', سامانه مدیریت نشریات علمی, 41(5), pp. 456-458.
Miryounesi, Mohammad, Ghafouri-Fard, Soudeh, Fardaei, Majid. A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia. سامانه مدیریت نشریات علمی, 1395; 41(5): 456-458.

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

Iranian Journal of Medical Sciences
مقاله 13، دوره 41، شماره 5، آذر 2016، صفحه 456-458    اصل مقاله (435.87 K)
نوع مقاله: Case Report(s)
نویسندگان
Mohammad Miryounesi1؛ Soudeh Ghafouri-Fard2؛ Majid Fardaei* 3
1Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran;
2Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran;
3Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran
چکیده
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.
کلیدواژه‌ها
Myotonia congenita؛ CLCN1 protein؛ Mutation
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