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

Emily Mira Warshauer*, Adam Brown, Ignacia Fuentes, Jonathan Shortt, Chris Gignoux, Francesco Montinaro, Mait Metspalu, Leila Youssefian, Hassan Vahidnezhad, Joanna Jacków, Angela M. Christiano, Jouni Uitto, Óscar R. Fajardo-Ramírez, Julio C. Salas-Alanis, John A. McGrath, Liliana Consuegra, Carolina Rivera, Paul A. Maier, Goran Runfeldt, Doron M. BeharKarl Skorecki, Eli Sprecher, Francis Palisson, David A. Norris, Anna L. Bruckner, Igor Kogut, Ganna Bilousova, Dennis R. Roop

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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.

Original languageEnglish
Pages (from-to)3390-3400
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
StatePublished - Nov 2021


FundersFunder number
Avotaynu Foundation
Dystrophic Epidermolysis Bullosa Research Assocation International
Epidermolysis Bullosa Center of Excellence at Children's Hospital Colorado
Epidermolysis Bullosa Research Partnership
Gates Frontiers Fund
National Institutes of Health
U.S. Department of DefenseW81XWH‐18‐1‐0706
National Institute of Arthritis and Musculoskeletal and Skin DiseasesU01AR075932, R01AR059947
Epidermolysis Bullosa Medical Research Foundation
Dystrophic Epidermolysis Bullosa Research Association of America
Cure EB


    • epidermolysis bullosa
    • genetics
    • genodermatoses


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