{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T15:24:08Z","timestamp":1780327448115,"version":"3.54.1"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,8,10]],"date-time":"2025-08-10T00:00:00Z","timestamp":1754784000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,10]],"date-time":"2025-08-10T00:00:00Z","timestamp":1754784000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Sarcoglycanopathies are autosomal recessive muscular dystrophies characterized by progressive muscle weakness and represent a major subset of limb\u2010girdle muscular dystrophies (LGMDs). They result from pathogenic variants in sarcoglycan genes (\n                    <jats:italic>SGCA<\/jats:italic>\n                    ,\n                    <jats:italic>SGCB<\/jats:italic>\n                    ,\n                    <jats:italic>SGCD<\/jats:italic>\n                    , and\n                    <jats:italic>SGCG<\/jats:italic>\n                    ), which encode subunits of a tetrameric transmembrane complex that stabilizes the dystrophin\u2010associated glycoprotein complex. Among these,\n                    <jats:italic>SGCG<\/jats:italic>\n                    is commonly affected and is associated with LGMD2C\/R5. Several founder variants in\n                    <jats:italic>SGCG<\/jats:italic>\n                    have been reported across different populations. Here, we describe a novel founder allele in the Turkish population, comprising a missense variant (c.392A&gt;G, p.Lys131Arg) and a copy number gain (exon 1\u20134 duplication) that occurs in cis. Through an inductive screening strategy, we identified these linked variants in 11 individuals: five affected patients from four families and six unrelated incidental carriers. Haplotype analysis confirmed a shared genomic background supporting a founder effect. Affected individuals carried the allele in a homozygous or compound heterozygous state with other pathogenic\n                    <jats:italic>SGCG<\/jats:italic>\n                    variants. Molecular and histopathological investigations revealed that the duplicated allele results in mRNA decay and loss of SGCG protein expression. This study represents the first report of a disease\u2010associated duplication in\n                    <jats:italic>SGCG,<\/jats:italic>\n                    highlighting a novel founder allele composed of two linked variants that contribute to sarcoglycanopathy in a specific population.\n                  <\/jats:p>","DOI":"10.1111\/cge.70041","type":"journal-article","created":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T03:28:13Z","timestamp":1754882893000},"page":"294-304","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Founder Allele in\n                    <scp>\n                      <i>SGCG<\/i>\n                    <\/scp>\n                    Combining Missense Variant and Multi\u2010Exon Duplication in Turkish Patients With Sarcoglycanopathy"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3886-3808","authenticated-orcid":false,"given":"Abdullah","family":"Sezer","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Ankara Etlik City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afife","family":"B\u00fcke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara Etlik City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasan H\u00fcseyin","family":"Kazan","sequence":"additional","affiliation":[{"name":"Department of Medical Biology G\u00fclhane Research and Training Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8966-2208","authenticated-orcid":false,"given":"Ahmet","family":"Kablan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara Etlik City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1563-2292","authenticated-orcid":false,"given":"Mustafa Tar\u0131k","family":"Alay","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara Etlik City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beril","family":"Talim","sequence":"additional","affiliation":[{"name":"Pediatric Pathology Unit, Department of Pediatrics Hacettepe University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Y\u00fcksel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Ankara Etlik City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanife","family":"Saat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara Etlik City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/77.2.169"},{"issue":"1","key":"e_1_2_10_3_1","first-page":"1","article-title":"Genetic Basis of Limb\u2010Girdle Muscular Dystrophies: The 2014 Update","volume":"33","author":"Nigro V.","year":"2014","journal-title":"Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of 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