{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T13:04:05Z","timestamp":1780923845085,"version":"3.54.1"},"reference-count":50,"publisher":"BMJ","issue":"1","funder":[{"DOI":"10.13039\/100002825","name":"Dystrophic Epidermolysis Bullosa Research Association of America","doi-asserted-by":"publisher","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}],"id":[{"id":"10.13039\/100002825","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Avotaynu Foundation","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]},{"name":"Epidermolysis Bullosa Research Partnership","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]},{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["W81XWH-18-1-0706"],"award-info":[{"award-number":["W81XWH-18-1-0706"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013786","name":"Cure EB","doi-asserted-by":"publisher","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}],"id":[{"id":"10.13039\/100013786","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002077","name":"Epidermolysis Bullosa Medical Research Foundation","doi-asserted-by":"publisher","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}],"id":[{"id":"10.13039\/100002077","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["R01AR059947 and U01AR075932"],"award-info":[{"award-number":["R01AR059947 and U01AR075932"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Gates Frontiers Fund","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,9,8]]},"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe blistering skin disorder caused by loss-of-function mutations in the type VII collagen gene (\n                      <jats:italic>COL7A1<\/jats:italic>\n                      ). The\n                      <jats:italic>COL7A1<\/jats:italic>\n                      c.6527insC mutation is curiously prevalent among individuals with RDEB and is found worldwide in Europe and the Americas. Previous research has suggested the possibility of a Sephardic Jewish origin of the mutation; however, individuals with RDEB are not known to have predominant Jewish ancestry.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this study, a global cohort of individuals with RDEB with the c.6527insC founder mutation from Spain, France, Argentina, Chile, Colombia and the USA were investigated by autosomal genotyping, pairwise identical-by-descent matching and a local ancestry analysis. Age estimation analysis was performed to determine when Jewish founders introduced the c.6527insC mutation into Iberian and Native American populations (~900\u2009CE and 1492 CE, respectively).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Sephardic ancestry was identified at the haplotype spanning the c.6527insC mutation in 85% of the individuals, despite mixed ancestry elsewhere in the genome and no known recent Sephardic ancestry. Identical-by-descent matching between this RDEB subpopulation and a known crypto-Jewish community in Belmonte, Portugal was also ascertained, providing support for crypto-Jewish ancestry in this RDEB subpopulation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The identification of this unique RDEB subpopulation unified by the single most prevalent c.6527insC mutation holds great potential to facilitate promising new RDEB therapies using CRISPR Cas 9 gene and base editing. The identification of a single guide RNA allowing efficient and safe editing of this variant would represent a unique drug to treat a large cohort of patients with the same founder mutation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg-2025-110967","type":"journal-article","created":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T17:20:27Z","timestamp":1758734427000},"page":"40-49","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation"],"prefix":"10.1136","volume":"63","clinical-trial-number":[{"clinical-trial-number":"nct01874769","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct01874769","registry":"10.18810\/clinical-trials-gov"}],"author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4055-5196","authenticated-orcid":false,"given":"Emily Mira","family":"Warshauer","sequence":"first","affiliation":[{"name":"Charles C. Gates Center for Regenerative Medicine, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, Colorado, USA"},{"name":"Pediatric, Adolescent, and Adult Dermatology, Point Pleasant, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul A","family":"Maier","sequence":"additional","affiliation":[{"name":"Gene by Gene, FamilyTreeDNA, Houston, Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goran","family":"Runfeldt","sequence":"additional","affiliation":[{"name":"Gene by Gene, FamilyTreeDNA, Houston, Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacia","family":"Fuentes","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Genomica, Universidad del Desarrollo Facultad de Medicina Cl\u00ednica Alemana, Santiago, Santiago Metropolitan Region, Chile"},{"name":"Fundacion DEBRA Chile, Santiago, Chile"},{"name":"Departamento de Bioingenier\u00eda, Celular y Molecular, Facultad de Ciencias Biol\u00f3gicas, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jos\u00e9","family":"Escamez","sequence":"additional","affiliation":[{"name":"Universidad Carlos III de Madrid, Departamento de Bioingenier\u00eda (UC3M), Centro de Investigaciones Energ\u00e9ticas, Medioambientales y Tecnol\u00f3gicas (CIEMAT), Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER-ISCIII), Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IIS-FJD), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Valinotto","sequence":"additional","affiliation":[{"name":"Center for Research in Genodermatosis and Epidermolysis Bullosa (CEDIGEA), Buenos Aires, Argentina"},{"name":"National Scientific and Technical Research Council (CONICET), Buenos Aires, 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