{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T16:24:05Z","timestamp":1785860645118,"version":"3.56.0"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,11,6]],"date-time":"2019-11-06T00:00:00Z","timestamp":1572998400000},"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":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dysferlinopathies are a group of autosomal recessive limb\u2010girdle muscular dystrophies (LGMDs) caused by mutations in <jats:italic>DYSF<\/jats:italic> (#603,009). This gene encodes a transmembrane protein called dysferlin. Since there are few reports on Iranian dysferlinopathy patients, we tried to identify the <jats:italic>DYSF<\/jats:italic> mutations in affected individuals of Iran.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Eight unrelated Iranian families have been selected for this study. Sanger sequencing followed by haplotype analysis was performed to identify individual variations in <jats:italic>DYSF<\/jats:italic> sequence. Identified variants were analyzed, and their pathogenicity was interpreted according to the recommendations of the American College of Medical Genetics and Genomics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified two new mutations in <jats:italic>DYSF<\/jats:italic>, the first one is a nonsense mutation c.2419C\u00a0&gt;\u00a0T (p.Gln807*), which eliminates downstream part of the protein. Another novel mutation is c. (1,053\u00a0+\u00a01_1,054\u20101)_(1,397\u00a0+\u00a01_1,398\u20101)del, which causes deletion of the DNA segment from exon 12 to exon 15.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Two of the other six families are from the same ethnicity and share the same mutation and haplotype patterns, suggesting a founder mutation. Genetic analysis of dysferlinopathy can prevent a wrong diagnosis of myositis for these patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1029","type":"journal-article","created":{"date-parts":[[2019,11,6]],"date-time":"2019-11-06T15:47:41Z","timestamp":1573055261000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetic variability in Iranian limb\u2010girdle muscular dystrophy type 2B patients: An evidence of a founder effect"],"prefix":"10.1002","volume":"7","author":[{"given":"Marzieh","family":"Mojbafan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Molecular Biology Faculty of Medicine Iran University of Medical Sciences (IUMS) Tehran Iran"},{"name":"Department of medical genetics Ali\u2010Asghar Children's Hospital Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirzadeh","family":"Tina","sequence":"additional","affiliation":[{"name":"Kawsar Human Genetics Research Center Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Zafarghandi Motlagh","sequence":"additional","affiliation":[{"name":"Kawsar Human Genetics Research Center Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrei","family":"Surguchov","sequence":"additional","affiliation":[{"name":"Department of Neurology Kansas University Medical Center Kansas City KS USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yalda","family":"Nilipour","sequence":"additional","affiliation":[{"name":"Pathology Department Pediatric Pathology Research Center Research Institute for Children Health Mofid Hospital Shahid Beheshti University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9516-9954","authenticated-orcid":false,"given":"Sirous","family":"Zeinali","sequence":"additional","affiliation":[{"name":"Kawsar Human Genetics Research Center Tehran Iran"},{"name":"Department of Molecular Medicine, Biotechnology Research Center Pasteur Institute of Iran Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"issue":"3","key":"e_1_2_9_3_1","first-page":"185","article-title":"Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis","volume":"30","author":"Angelini C.","year":"2011","journal-title":"Acta Myol"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.70"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22220"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200888"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.361"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420214"},{"key":"e_1_2_9_10_1","unstructured":"Dubowitz V.(1973).Histological and histochemical stains and reactions. 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