Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry
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.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Aug 26, 2021
- Source ID
- 10.1002/ajmg.a.62456
Entities
People
- Adam D Brown
- Angela M. Christiano
- Anna L. Bruckner
- Carolina Rivera
- Chris Gignoux
- David A. Norris
- Dennis R. Roop
- Doron M. Behar
- Eli Sprecher
- Emily Warshauer
- Francesco Montinaro
- Francis Palisson
- Ganna Bilousova
- Goran Runfeldt
- Hassan Vahidnezhad
- Ignacia Fuentes
- Igor Kogut
- Joanna Jacków
- John A. Mcgrath
- Jonathan Shortt
- Jouni Uitto
- Julio C. Salas‐alanis
- Karl Skorecki
- Leila Youssefian
- Liliana Consuegra
- Mait Metspalu
- Paul A. Maier
- Óscar R. Fajardo‐ramírez
Organizations
- Bar-Ilan University
- Columbia University
- Epidermolysis Bullosa Medical Research Foundation
- Gene by Gene
- King's College London
- Monterrey Institute of Technology and Higher Education
- National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Tel Aviv Sourasky Medical Center
- Tel Aviv University
- Thomas Jefferson University
- United States Department of Defense
- Universidad del Desarrollo
- University of Bari
- University of Colorado
- University of Tartu