Abstract
Thomsen’s and Becker’s diseases are the most prevalent nondystrophic myotonias. Their frequency varies, according to different sources, from 1: 100000 to 1: 10000. Thomsen’s myotonia is autosomal dominant, and Becker’s myotonia is autosomal recessive. Both diseases result from mutations of the CLCN1 gene encoding chloride ion channels of skeletal muscles. Molecular genetic analysis of the CLCN1 gene has been performed in patients with diagnoses of nondystrophic Thomsen’s and Becker’s myotonias living in the Russian Federation. A sample of 79 unrelated probands with nondystrophic Thomsen’s and Becker’s myotonias and 44 their relatives has been formed in the Laboratory of DNA Diagnosis of the Medical Genetic Research Center of the Russian Academy of Medical Sciences. Forty CLCN1 gene mutations have been found in a total of 118 chromosomes of 66 probands, including 21 familial and 45 sporadic cases. About half the mutations detected (45%) have been found for the first time; they are not described in the SNP database (ncbi.nlm.nih.gov). The following mutations (substitutions) have been detected in more than one chromosome, accounting for a total of 59.3% of chromosomes with mutations: Gly190Ser (5.9%), c.1437_1450del14 (9.3%), Ala493Glu (5.1%), Thr550Met (3.4%), Tyr686Stop (5.1%), and Arg894Stop (30.5%).
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Original Russian Text © E.A. Ivanova, E.L. Dadali, V.P. Fedotov, S.A. Kurbatov, G.E. Rudenskaya, T.N. Proskokova, A.V. Polyakov, 2012, published in Genetika, 2012, Vol. 48, No. 9, pp. 1113–1123.
According to the current rules of the nomenclature of mutations in the human genome presented at the Human Genome Variation Society website (http://www.hgvs.org/mutnomen/rec-sport.html; den Dunnen, J.T. and Antonarakis, S.E., Hum. Mutat., 2000, vol. 15, pp. 7–12), the names of all mutations mentioned in this paper that have been described at the protein level should begin with p., e.g., p.Gly190Ser instead of Gly190Ser.
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Ivanova, E.A., Dadali, E.L., Fedotov, V.P. et al. The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias. Russ J Genet 48, 952–961 (2012). https://doi.org/10.1134/S1022795412090049
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DOI: https://doi.org/10.1134/S1022795412090049