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


HU G., Yildirim M. , BAYSAL V., YEREBAKAN O., YILMAZ E., SERHAT INALOZ H., ...More

JOURNAL OF INVESTIGATIVE DERMATOLOGY, vol.120, no.6, pp.967-969, 2003 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 120 Issue: 6
  • Publication Date: 2003
  • Doi Number: 10.1046/j.1523-1747.2003.12248.x
  • Title of Journal : JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • Page Numbers: pp.967-969

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.