A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda

Summary Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8qter, and recently mutations in the ARS (component B) gene have been identified in families with this disorder. We describe a small family of Turkish origin with Mal de Meleda and identified a novel homozygous mutation, L98P, in ARS (component B). These findings extend the body of evidence implicating mutations in the ARS (component B) gene in Mal de Meleda.