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

Abstract

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.