Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe blistering skin disorder caused by a genetic mutation in the type VII collagen gene (COL7A1). The COL7A1 c.6527insC mutation is present worldwide and a Sephardic origin of this prevalent mutation has been suggested. In this study, RDEB individuals with the COL7A1 c.6527insC mutation from Spain, France, Argentina, Chile, Colombia, and the USA were investigated by a comprehensive ancestry and age analysis. Sephardic ancestry was identified in a segment spanning the c.6527insC mutation for the majority of individuals. The identification of this RDEB population unified by the c.6527insC mutation holds great potential to facilitate promising new therapies. (By Dr Emily Mira Warshauer, https://jmg.bmj.com/content/early/2025/09/24/jmg-2025-110967 )

 

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