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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Antigens, Ly / genetics*
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Base Sequence / genetics
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Codon, Nonsense*
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Female
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Founder Effect*
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Genes, Recessive
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Haplotypes
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Humans
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Keratoderma, Palmoplantar / genetics*
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Keratoderma, Palmoplantar / pathology
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Male
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Molecular Sequence Data
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Pedigree
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Recurrence
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Turkey
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Urokinase-Type Plasminogen Activator / genetics*
Substances
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Antigens, Ly
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Codon, Nonsense
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SLURP1 protein, human
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Urokinase-Type Plasminogen Activator