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

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Hu G., Yıldırım M., Baysal V., Yerebakan O., Yılmaz E., Serhat Inaloz H., ...Daha Fazla

JOURNAL OF INVESTIGATIVE DERMATOLOGY, cilt.120, sa.6, ss.967-969, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 120 Sayı: 6
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1046/j.1523-1747.2003.12248.x
  • Dergi Adı: JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.967-969
  • Anahtar Kelimeler: ARS (component B), founder, mal de Meleda, mutation, SLURP-1, DE-MELEDA, DISEASE
  • Akdeniz Üniversitesi Adresli: Evet

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.