Молекулярно-генетический анализ врожденной мерозин-дефицитной мышечной дистрофии в России

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.