{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T02:13:43Z","timestamp":1781662423159,"version":"3.54.5"},"reference-count":46,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T00:00:00Z","timestamp":1661472000000},"content-version":"am","delay-in-days":365,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#am"},{"start":{"date-parts":[[2021,8,26]],"date-time":"2021-08-26T00:00:00Z","timestamp":1629936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100013786","name":"Cure EB","doi-asserted-by":"publisher","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","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"],"award-info":[{"award-number":["R01AR059947"]}],"id":[{"id":"10.13039\/100000069","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":["U01AR075932"],"award-info":[{"award-number":["U01AR075932"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["W81XWH\u201018\u20101\u20100706"],"award-info":[{"award-number":["W81XWH\u201018\u20101\u20100706"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen (<jats:italic>COL7A1<\/jats:italic>). More than 800 different pathogenic mutations in <jats:italic>COL7A1<\/jats:italic> have been described to date; however, the ancestral origins of many of these mutations have not been precisely identified. In this study, 32 RDEB patient samples from the Southwestern United States, Mexico, Chile, and Colombia carrying common mutations in the <jats:italic>COL7A1<\/jats:italic> gene were investigated to determine the origins of these mutations and the extent to which shared ancestry contributes to disease prevalence. The results demonstrate both shared European and American origins of RDEB mutations in distinct populations in the Americas and suggest the influence of Sephardic ancestry in at least some RDEB mutations of European origins. Knowledge of ancestry and relatedness among RDEB patient populations will be crucial for the development of future clinical trials and the advancement of novel therapeutics.<\/jats:p>","DOI":"10.1002\/ajmg.a.62456","type":"journal-article","created":{"date-parts":[[2021,8,26]],"date-time":"2021-08-26T10:25:29Z","timestamp":1629973529000},"page":"3390-3400","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4055-5196","authenticated-orcid":false,"given":"Emily Mira","family":"Warshauer","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Colorado School of Medicine, Anschutz Medical Campus  Aurora Colorado USA"},{"name":"Charles C. Gates Center for Regenerative Medicine University of Colorado School of Medicine, Anschutz Medical Campus  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Brown","sequence":"additional","affiliation":[{"name":"Avotaynu Research Partnership LLC  Englewood New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacia","family":"Fuentes","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Gen\u00f3mica, Facultad de Medicina Cl\u00ednica Alemana Universidad del Desarrollo  Santiago Chile"},{"name":"Fundaci\u00f3n DEBRA Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Shortt","sequence":"additional","affiliation":[{"name":"Colorado Center for Personalized Medicine University of Colorado Anschutz Medical Campus  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Gignoux","sequence":"additional","affiliation":[{"name":"Colorado Center for Personalized Medicine University of Colorado Anschutz Medical Campus  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Montinaro","sequence":"additional","affiliation":[{"name":"Estonian Biocentre, Institute of Genomics, University of Tartu  Tartu Estonia"},{"name":"Department of Biology and Genetics University of Bari  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mait","family":"Metspalu","sequence":"additional","affiliation":[{"name":"Estonian Biocentre, Institute of Genomics, University of Tartu  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Youssefian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4298-9147","authenticated-orcid":false,"given":"Hassan","family":"Vahidnezhad","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Jack\u00f3w","sequence":"additional","affiliation":[{"name":"Department of Dermatology Columbia University  New York New York USA"},{"name":"St. John's Institute of Dermatology, King's College London (Guy's Campus)  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela M.","family":"Christiano","sequence":"additional","affiliation":[{"name":"Department of Dermatology Columbia University  New York New York USA"},{"name":"Department of Genetics and Development Columbia University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4639-807X","authenticated-orcid":false,"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d3scar R.","family":"Fajardo\u2010Ram\u00edrez","sequence":"additional","affiliation":[{"name":"DEBRA Mexico  Azteca Guadalupe Mexico"},{"name":"Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud  Monterrey Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio C.","family":"Salas\u2010Alanis","sequence":"additional","affiliation":[{"name":"DEBRA Mexico  Azteca Guadalupe Mexico"},{"name":"Instituto Dermatologico de Jalisco  Zapopan Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"McGrath","sequence":"additional","affiliation":[{"name":"St. John's Institute of Dermatology, King's College London (Guy's Campus)  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliana","family":"Consuegra","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n DEBRA Colombia  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Rivera","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n DEBRA Colombia  Bogot\u00e1 Colombia"},{"name":"Department of Medical Genetics Pediatric Hospital, Fundacion Cardioinfantil\u2010Universidad del Rosario  Bogot\u00e1 Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul A.","family":"Maier","sequence":"additional","affiliation":[{"name":"Gene by Gene, Genomic Research Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goran","family":"Runfeldt","sequence":"additional","affiliation":[{"name":"Gene by Gene, Genomic Research Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doron M.","family":"Behar","sequence":"additional","affiliation":[{"name":"Estonian Biocentre, Institute of Genomics, University of Tartu  Tartu Estonia"},{"name":"Gene by Gene, Genomic Research Center  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Skorecki","sequence":"additional","affiliation":[{"name":"Azrieli Faculty of Medicine of the Galilee Bar\u2010Ilan University  Safed Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eli","family":"Sprecher","sequence":"additional","affiliation":[{"name":"Department of Dermatology Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Department of Human Molecular Genetics, Sackler Faculty of Medicine Tel\u2010Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis","family":"Palisson","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n DEBRA Chile  Santiago Chile"},{"name":"Facultad de Medicina Cl\u00ednica Alemana Universidad del Desarrollo  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Norris","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Colorado School of Medicine, Anschutz Medical Campus  Aurora Colorado USA"},{"name":"Charles C. Gates Center for Regenerative Medicine University of Colorado School of Medicine, Anschutz Medical Campus  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna L.","family":"Bruckner","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Colorado School of Medicine, Anschutz Medical Campus  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Kogut","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Colorado School of Medicine, Anschutz Medical Campus  Aurora Colorado USA"},{"name":"Charles C. Gates Center for Regenerative Medicine University of Colorado School of Medicine, Anschutz Medical Campus  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganna","family":"Bilousova","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Colorado School of Medicine, Anschutz Medical Campus  Aurora Colorado USA"},{"name":"Charles C. Gates Center for Regenerative Medicine University of Colorado School of Medicine, Anschutz Medical Campus  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis R.","family":"Roop","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Colorado School of Medicine, Anschutz Medical Campus  Aurora Colorado USA"},{"name":"Charles C. Gates Center for Regenerative Medicine University of Colorado School of Medicine, Anschutz Medical Campus  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,8,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.11.007"},{"issue":"3","key":"e_1_2_9_3_1","first-page":"644","article-title":"Familial Mediterranean fever (FMF) in Moroccan Jews: Demonstration of a founder effect by extended haplotype analysis","volume":"53","author":"Aksentijevich I.","year":"1993","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.094052.109"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/325779"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3378\/027.085.0604"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09103"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/674986"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2019.03.007"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1204840109"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.296.5566.261b"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-07748-z"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13742-015-0047-8"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2287-8"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1785"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/302167"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09534"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11632"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8817.2005.00161.x"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.023"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1243518"},{"issue":"2","key":"e_1_2_9_23_1","first-page":"289","article-title":"Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa","volume":"55","author":"Hovnanian A.","year":"1994","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0135820"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz972"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002453"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14230"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3679"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.020"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2018.01.009"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18639"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7596"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.140"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2015.00012"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2019.09.076"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ghir.2015.08.003"},{"key":"e_1_2_9_38_1","unstructured":"Picard. (2020). Retrieved fromhttp:\/\/broadinstitute.github.io\/picard\/"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2012.11128.x"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1998.2.293"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1779-6"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-198"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-018-1522-1"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-55185-9"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1072-z"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/molbev\/msr221"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005068"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62456","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62456","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/am-pdf\/10.1002\/ajmg.a.62456","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62456","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T04:02:32Z","timestamp":1692504152000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62456"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,26]]},"references-count":46,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["10.1002\/ajmg.a.62456"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62456","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,26]]},"assertion":[{"value":"2021-05-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}