{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:45:38Z","timestamp":1791049538466,"version":"4.1.0"},"reference-count":11,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2024]]},"abstract":"<b><i>Introduction:<\/i><\/b> Mutations in collagen type IV-associated genes lead to Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). <i>COL12A1<\/i> gene mutations have rarely been reported in patients with UCMD- and BM-like disorders not involving <i>COL6<\/i> mutations. UCMD-2 results from homozygous mutations in the <i>COL12A1<\/i> gene on the long arm of chromosome 6. Pathogenic variants in <i>COL12A1<\/i> result in a rare congenital connective tissue\/myopathy overlap syndrome under the heading of myopathic Ehlers-Danlos syndrome. <i>COL12A1<\/i> dominant pathogenic variants have been rarely reported, and the phenotypic spectrum has not yet been identified. <b><i>Case Presentation:<\/i><\/b> We describe a female patient aged 2 years and 10 months exhibiting a milder phenotype who presented due to pronounced joint hyperlaxity, frequent falls, and skin lesions. Genetic analysis revealed a homozygous c.8903C&gt;T (p.Pro2968Leu) missense variant that had previously been described but concerning which there had been no clinical report, in the <i>COL12A1<\/i> gene. <b><i>Discussion\/Conclusion:<\/i><\/b> This report is presented in order to raise awareness of rare mutations in the <i>COL12A1<\/i> gene that affect muscle and connective tissue and to add to the literature in defining the phenotypic spectrum. <\/jats:p>","DOI":"10.1159\/000536344","type":"journal-article","created":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T22:00:31Z","timestamp":1708984831000},"page":"311-316","source":"Crossref","is-referenced-by-count":4,"title":["<i>COL12A1<\/i> Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy"],"prefix":"10.1159","volume":"15","author":[{"given":"Rojan","family":"\u0130pek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00fc\u015fra Eser","family":"\u00c7avdartepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevcan Tu\u011f","family":"Bozdo\u011fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulu\u00e7","family":"Yi\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2024,2,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2011.81"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt627"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25232"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62653"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2020.145266"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2002.002311"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.07.011"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt637"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0599-6"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13534"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26067"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/4\/311\/4262334\/000536344.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/4\/311\/4262334\/000536344.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:06:27Z","timestamp":1745424387000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000536344"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,8,7]]},"published-print":{"date-parts":[[2024,8,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000536344","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024]]}}}