medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2018.07.38-45medgen-531Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHМОЛЕКУЛЯРНО-ГЕНЕТИЧЕСКИЙ АНАЛИЗ ВРОЖДЕННОЙ МЕРОЗИН-ДЕФИЦИТНОЙ МЫШЕЧНОЙ ДИСТРОФИИ В РОССИИMOLECULAR GENETIC ANALYSIS OF CONGENITAL MEROZIN-NEGATIVE MUSCULAR DYSTROPHY IN RUSSIAМиловидоваТ. Б.MilovidovaT. B.БулахМ. В.BulachM. V.ЩагинаО. А.SchaginaO. A.ПоляковА. В.PolyakovA. V.ФГБНУ «Медико-генетический научный центр»РоссияFederal State budgetary institution «Research centre for medical genetics»Russian Federation2018081020181773845Copyright © Миловидова Т.Б., Булах М.В., Щагина О.А., Поляков А.В., 20182018Миловидова Т.Б., Булах М.В., Щагина О.А., Поляков А.В.Milovidova T.B., Bulach M.V., Schagina O.A., Polyakov A.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/531

Врожденные мышечные дистрофии (ВМД) представляют собой генетически гетерогенную группу заболеваний, основным клиническим проявлением которых является синдром «вялого» ребенка, характеризующийся мышечной слабостью, возникающей сразу после рождения или в первые шесть месяцев жизни. Наиболее частой среди ВМД является мерозин-дефицитная мышечная дистрофия, обусловленная мутациями в гене LAMA2. В настоящей работе представлены результаты молекулярно-генетического анализа гена LAMA2 у 29 неродственных пациентов с направительным диагнозом ВМД. Описан спектр мутаций гена LAMA2 у российских больных. Детектированы новые аллельные варианты гена LAMA2. c.6992+1G>T, c.3829C>T, c.5422C>T, c.6406C>T, c.7888C>T, c.172T>C, c.3dupG, c.4254insCCAT, c.4665dupG, c.7308insGATTGGCTATATCA-ATTGTATCTATA и c.7701delTinsGTGTCCCTAGGTGTCCCTA. Показан эффект основателя для самой частой в России мутации гена LAMA2 — c.7536delC, определен наиболее вероятный предковый гаплотип для хромосом с данной мутацией.

Congenital muscular dystrophy (CMD) is a genetically heterogeneous group of diseases, the main clinical manifestation of which is the «floppy» child syndrome, characterized by muscle weakness that occurs immediately after birth or during the first six months of life. The merozin-deficiency muscular dystrophy, caused by mutations in the LAMA2 gene, is the most common form of CMD. This paper presents results of molecular genetic  analysis of the LAMA2 gene  in 29 unrelated  patients  with CMD. The spectrum  of LAMA2 gene  mutations  in Russia is described. New allelic variants of the LAMA2 gene  have been  detected: c.6992+1G>T,  c.3829C>T, c.5422C>T, c.6406C>T, c.7888C>T, c.172T>C, c.3dupG, c.4254insCCAT, c.4665dupG, c.7308insGATTGGCTATATCAATTGTATCTATA and c.7701delTinsGTGTCCCTAGGTGTCCCTA. The founder  effect  for the most  frequent in Russia mutation of the LAMA2 gene — c.7536delC  is shown, the most probable ancestral  haplotype for chromosomes with this mutation is determined.

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The authors declare that there are no conflicts of interest present.