Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry. Issue 11 (26th August 2021)

• Record Type: Journal Article
• 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.
• Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor.
• Is Part Of: American journal of medical genetics. Volume 185:Issue 11(2021)
• Page Start: 3390
• Page End: 3400
• Publication Date: 2021-08-26
• Subjects: epidermolysis bullosa -- genetics -- genodermatoses; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62456
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: 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.