Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda
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چکیده
منابع مشابه
A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.
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.
متن کاملMutations in the gene encoding SLURP-1 in Mal de Meleda.
Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly and nail abnormalities. We report the refinement of our previously described interval of MDM on chromosome 8qter, and the identification of mutations in affected individuals in the ARS (component B) gene, encodin...
متن کاملA Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea
Mal de Meleda (MDM), also known as keratoderma palmoplantaris transgrediens, is a rare inherited form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands and feet. A 15-year-old Korean female presented with sharply demarcated hyperkeratotic plaques on the palms and soles, which extended to the dorsa...
متن کاملIdentification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda.
Mal de Meleda is an autosomal recessive inflammatory and keratotic palmoplantar skin disorder due to mutations in the ARS B gene, encoding for SLURP-1 (secreted mammalian Ly-6/uPAR-related protein 1). SLURP-1 belongs to the Ly-6/uPAR superfamily of receptor and secreted proteins, which participate in signal transduction, immune cell activation or cellular adhesion. The high degree of structural...
متن کامل[Meleda disease (Mal de Meleda): historical shifts in perception].
Nowadays, hereditary diseases are viewed through molecular mechanisms, and one of them, which keeps occurring rather frequently in medical publications, has been named after the Island of Mljet. The world first learned about mal de Meleda from a Dubrovnik physician Luka Stulli in 1826. He described it in a number of his island patients as a non-contagious hereditary skin disease, and named it m...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2003
ISSN: 0022-202X
DOI: 10.1046/j.1523-1747.2003.12020.x