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., ...Daha Fazla

JOURNAL OF INVESTIGATIVE DERMATOLOGY, cilt.120, ss.967-969, 2003 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 120 Konu: 6
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1046/j.1523-1747.2003.12248.x
  • Dergi Adı: JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • Sayfa Sayıları: ss.967-969

Özet

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.