A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect

J Invest Dermatol. 2003 Jun;120(6):967-9. doi: 10.1046/j.1523-1747.2003.12248.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Antigens, Ly / genetics*
  • Base Sequence / genetics
  • Codon, Nonsense*
  • Female
  • Founder Effect*
  • Genes, Recessive
  • Haplotypes
  • Humans
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Recurrence
  • Turkey
  • Urokinase-Type Plasminogen Activator / genetics*

Substances

  • Antigens, Ly
  • Codon, Nonsense
  • SLURP1 protein, human
  • Urokinase-Type Plasminogen Activator