A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder Effect

6 páginas, 2 figuras.Mal de Meleda is a rare form of palmoplantar keratoderma, and recently mutations in the ARS (component) B gene have been identified in families with this disease. We identified a recurrent nonsense mutation, R96X, in four families of Turkish descent. In this report, we demonstrate that these families share a common ancestral haplotype at the mal de Meleda locus, suggesting a founder effect.This work was supported in part by the Dermatology Foundation (J.T.C.), the Waterbor Burn and Cancer Foundation (J.T.C.), the Irving Center for Clinical Research at Columbia University (J.T.C.), and USPHS NIH RO1AR44924 (A.M.C.).Peer reviewe