Premium
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry
Author(s) -
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,
FajardoRamírez Óscar R.,
SalasAlanis 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.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62456
Subject(s) - genodermatosis , genetics , biology , mutation , epidermolysis bullosa , disease , medical genetics , gene , evolutionary biology , medicine , pathology
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.