Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation

    December 2022 in “ Journal of Investigative Dermatology ”
    E.M. Warshauer, P. Maier, I. Fuentes, G. Runfeldt, M. Escámez, L. Valinotto, A. Brown, F. Palisson, A. Hovnanian, D. Roop
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    TLDR Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
    The study investigated approximately 100 Recessive Dystrophic Epidermolysis Bullosa (RDEB) patients carrying the prevalent COL7A1 c.6527insC mutation from various countries including Spain, France, Argentina, Chile, Colombia, and the USA. The research found that nearly all these individuals inherited a Sephardic segment that encompasses the c.6527insC mutation, despite having mixed ancestry elsewhere in their genome and no known recent Sephardic ancestry. The shared c.6527insC-containing haplotypes suggest an origin for the founding population dating around 500 years ago on the Iberian Peninsula. This identification of homogeneous RDEB subpopulations with common ancestral origins could facilitate the efficient implementation of new gene and cell-based regenerative therapies for RDEB.
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