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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 120 Issue: 6
  • Publication Date: 2003
  • Doi Number: 10.1046/j.1523-1747.2003.12248.x
  • Journal Name: JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.967-969
  • Keywords: ARS (component B), founder, mal de Meleda, mutation, SLURP-1, DE-MELEDA, DISEASE
  • Süleyman Demirel University Affiliated: Yes

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.