Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen (COL7A1). More than 800 different pathogenic mutations in COL7A1 have been described to date; however, the ancestral origins of many of these mutations have not bee...

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 185; no. 11; pp. 3390 - 3400
Main Authors:	Warshauer, Emily Mira, Brown, Adam, Fuentes, Ignacia, Shortt, Jonathan, Gignoux, Chris, Montinaro, Francesco, Metspalu, Mait, Youssefian, Leila, Vahidnezhad, Hassan, Jacków, Joanna, Christiano, Angela M., Uitto, Jouni, Fajardo‐Ramírez, Óscar R., Salas‐Alanis, Julio C., McGrath, John A., Consuegra, Liliana, Rivera, Carolina, Maier, Paul A., Runfeldt, Goran, Behar, Doron M., Skorecki, Karl, Sprecher, Eli, Palisson, Francis, Norris, David A., Bruckner, Anna L., Kogut, Igor, Bilousova, Ganna, Roop, Dennis R.
Format:	Journal Article
Language:	English
Published:	Hoboken, USA John Wiley & Sons, Inc 01-11-2021 Wiley Subscription Services, Inc
Subjects:	Chile - epidemiology Clinical trials Collagen Collagen (type VII) Collagen Type VII - genetics Colombia - epidemiology Dystrophic epidermolysis bullosa Epidermolysis bullosa Epidermolysis Bullosa Dystrophica - epidemiology Epidermolysis Bullosa Dystrophica - genetics Female Genes, Recessive - genetics genetics genodermatoses Genodermatosis Hispanic or Latino - genetics Humans Jews - genetics Male Mexico - epidemiology Mutation Patients Phenotype United States - epidemiology Colombia Mexico Chile United States epidermolysis bullosa genodermatoses genetics
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Summary:	Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen (COL7A1). More than 800 different pathogenic mutations in COL7A1 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 COL7A1 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.
Bibliography:	Funding information Avotaynu Foundation; Cure EB; Dystrophic Epidermolysis Bullosa Research Assocation International; Epidermolysis Bullosa Medical Research Foundation; Epidermolysis Bullosa Research Partnership; Gates Frontiers Fund; National Institute of Arthritis and Musculoskeletal and Skin Diseases, Grant/Award Numbers: R01AR059947, U01AR075932; U.S. Department of Defense, Grant/Award Number: W81XWH‐18‐1‐0706 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Author Contribution Statement Conceptualization: E.W., A.B., I.F., K.S., E.S., D.R. Formal Analysis: E.W., A.B., I.F., J.S., C.G., F.M., M.M., L.Y., H.V., J.J., A.C., J.U., O.F., J.S., J.M., L.C., C.R., P.M., G.R., D.B., K.S., E.S., F.P., D.N., A.B., I.K., G.B., D.R. Writing- original draft: E.W., I.F., J.S., C.G., F.M., D.R. Writing- review and editing: E.W., A.B., I.F., J.S., C.G., F.M., P.M., G.R., K.S., D.R.
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.62456