Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene.

The article presents a study which examines the prevalence of halpotype in western European patients with mal de Meleda (MDM), described as an autosomal recessive monogenic disorder defined by progressive transgradient hyperkeratosis of the palms and soles. Particular focus is given to the spectrum of mutations in SLURP1 as a cause for MDM. An ancient founder effect for p.W15R in western European population is suggested.