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., ...More

JOURNAL OF INVESTIGATIVE DERMATOLOGY, vol.120, no.6, pp.967-969, 2003 (SCI-Expanded, Scopus)

• 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
• Open Archive Collection: AVESIS Open Access Collection
• Akdeniz 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.