{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T14:46:32Z","timestamp":1768315592436,"version":"3.49.0"},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,8,8]],"date-time":"2023-08-08T00:00:00Z","timestamp":1691452800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dysferlinopathy has a high prevalence in relatively isolated ethnic groups where consanguineous marriages are characteristic and\/or the founder effect exists. However, the frequency of endemic mutations in most isolates has not been investigated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The prevalence of the pathological <jats:italic>DYSF<\/jats:italic> gene variant (NM_003494.4); c.200_201delinsAT, p. Val67Asp (rs121908957) was investigated in an isolated Avar population in the Republic of Dagestan. Genetic screenings were conducted in a remote mountainous region characterized by a high level of consanguinity among its inhabitants. In total, 746 individuals were included in the screenings.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This pathological <jats:italic>DYSF<\/jats:italic> gene variant causes two primary phenotypes of dysferlinopathy: limb\u2010girdle muscular dystrophy (LGMD) type R2 and Miyoshi muscular dystrophy type 1. Results indicated a high prevalence of the allele at 14% (95% confidence interval [CI]: 12\u201317; 138 out of 1518 alleles), while the allele in the homozygous state was detected in 29 cases\u20143.8% (CI: 2.6\u20135.4). The population load for dysferlinopathy was 832.3\u2009\u00b1\u2009153.9 per 100,000 with an average prevalence of limb\u2010girdle muscular dystrophies ranging from 0.38\u2009\u00b1\u20090.38 to 5.93\u2009\u00b1\u20091.44 per 100,000.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A significant burden of the allele was due to inbreeding, as evidenced by a deficiency of heterozygotes and the Wright fixation index equal to 0.14 (CI 0.06\u20130.23).<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2236","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T04:45:26Z","timestamp":1691556326000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic screening of an endemic mutation in the <i>DYSF<\/i> gene in an isolated, mountainous population in the Republic of Dagestan"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3804-6245","authenticated-orcid":false,"given":"Sergey N.","family":"Bardakov","sequence":"first","affiliation":[{"name":"S.M. 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Mechnikov  Saint Petersburg Russia"},{"name":"Human Stem Cells Institute  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0410rtur \u0410.","family":"Isaev","sequence":"additional","affiliation":[{"name":"Human Stem Cells Institute  Moscow Russia"},{"name":"Genotarget LLC Skolkovo Innovation Centre  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6435-7218","authenticated-orcid":false,"given":"Nikita N.","family":"Khromov\u2010Borisov","sequence":"additional","affiliation":[{"name":"Almazov National Medical Research Centre  Saint Petersburg Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9927-5608","authenticated-orcid":false,"given":"Evgeniy D.","family":"Kopylov","sequence":"additional","affiliation":[{"name":"North\u2010Western State Medical University named after I.I. 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