Оценка частоты поясно-конечностной мышечной дистрофии типа 2L в Российской Федерации

Limb-girdle muscular dystrophy (LGMD) 2L is caused by mutations in the ANO5 gene and is predominantly distributed in Northern Europe and Finland. There are two major mutations in European population: c.191dupA (p.Asn64Lysfs) and c.2272C>T (p.Arg758Cys), which leading to LGMD 2L and Miyoshi muscular dystrophy, type 3. This two common mutations were analyzed in the cohort of Russian LGMD patients comprising 480 samples from different areas of Russian Federation. Four patients were heterozygous and one patient was homozygous for the c.2272C>T mutation. The c.191dupA mutation wasn’t found. A c.173G>A (p.Arg58Gln) mutation and a novel с.412G>T (p.Gly138Stop) mutation were identified in heterozygous status in one case each. LGMD 2L accounts at least 0,6% in a Russian LGMD cohort. The prevalence of LGMD2L in Russian Federation was estimated at least 1:120000 with 95% confidence intervals of 1:20000 to 1:825000.