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Myotonia congenita type Becker is an autosomal recessive nondystrophic skeletal muscle disorder, caused by mutations in the CLCN1 gene. The disease is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Here we report the results from molecular genetic testing of 6 families, referred for sequencing of the CLCN1 gene. The disease causing mutations were detected in 5 of the cases, representing diverse type of nucleotide changes: nonsense (p.Arg894*), splice-site (c.1471+1G>A), missense (p.Val273Met; p.Tyr524Cys). Two additional changes were detected in an asymptomatic individual (c.2284+5C>T and p.Phe167Leu). Two of the detected mutations are interesting from population point of view. The novel missense mutation p.Tyr524Cys was found in a large Bulgarian family with affected individuals in both vertical and horizontal pedigree directions, all of them carrying the mutation in homozygous form. They populate a village located in the northwest part of the country. Endogamous marriages are very unusual for the Bulgarian population, supposing a high carrier frequency in this subpopulation. Screening of 154 residents of the corresponding region showed a significant carrier frequency for the p.Tyr524Cys mutation of about 0.65% (1/154). The second interesting region in the context of Myotonia congenita type Becker is the southwest part of the country, where we found a large family of Bulgarian Turkish origin. The disease causing missense mutation p.Val273Met was again present in homozygous state. Surprisingly, the genetic testing of newborns from southwest Bulgaria showed an even higher carrier status of about 2.6% (3/116), disproving our initial hypothesis of endogamous marriages (traditionally common in this subpopulation) being the cause of the disease in these patients. However the probability of consanguineous marriages being the cause for further exaggeration of the anyway very high carrier frequency cannot be excluded.
Pubmed ID: 27614575 RIS Download
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The Society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. We promote collection, documentation and free distribution of genomic variation information and associated clinical variations and endeavor to foster the development of the necessary methodology and informatics. Mission Statement To enhance human health through identification and characterization of changes in the genome that lead to susceptibility to illness. To this end, to collate the genomic information necessary for molecular diagnosis, research on basic mechanisms and design of treatments of human ailments. Society Journal Human Mutation is the Society journal. Members will receive a reduced subscription to the journal if they choose to subscribe. Meetings The Society holds two scientific meetings per year. One as a satellite to either the HUGO (Human Genome Organization) annual meeting or the ESHG (European Society of Human Genetics) annual meeting and one meeting is a satellite to the ASHG (American Society of Human Genetics annual meeting. The meetings are a forum for scientists to exchange ideas and form collaborations. Prominent speakers in the field are invited as well as a call for abstracts at large. The meetings are designed to update and increase knowledge of human genome variation and generally attract a stimulating and interesting collection of abstracts in all fields of human genome variation making it an ideal forum to share information and results. Past themes include: copy number variation, pathogenic or not?, pharmacogenomics, new DNA sequencing technologies, and genotype to pheontype relationships. We invite members and non-members alike to attend these meetings. The Society holds the Annual General Meeting of the members after the scientific meeting that is a satellite of the ASHG. Exhibitor''s booths The Society usually takes out an Exhibitor''s booth at the American & European Societies of Human Genetics annual meetings and sometimes the HUGO HGM meeting. GUIDELINES & RECOMMENDATIONS Members of the Society have formulated Guidelines & Recommendations on a number of topics, but especially for nomenclature of gene variations and guidelines on variation databases.
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