HU, GF; YILMAZ, E; Yildirim, Mehmet; YEREBAKAN, O; SERHAT INALOZ, H; MARTINEZ-MIR, A; CELEBI, JT; CHRISTIANO, AM; BAYSAL, V
Description:
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.