2. Academic Validation
  3. Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda

  • J Invest Dermatol. 2003 Mar;120(3):351-5. doi: 10.1046/j.1523-1747.2003.12062.x.
Slaheddine Marrakchi 1,  Stéphanie Audebert,  Bakar Bouadjar,  Christina Has,  Caroline Lefèvre,  Colin Munro,  Susan Cure,  Florence Jobard,  Susanne Morlot,  Daniel Hohl,  Jean-François Prud'homme,  Abdelmadjid Zahaf,  Hamida Turki,  Judith Fischer
Affiliations

Affiliation

  • 1 CHU Heidi Chaker, Department of Dermatology, Sfax, Tunisia.
PMID: 12603845 DOI: 10.1046/j.1523-1747.2003.12062.x
Abstract

Mal de Meleda is a recessive, transgressive palmoplantar keratoderma for which we previously identified mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1). In this report we describe two new mutations: (i) a founder mutation, which changes a conserved cysteine residue to tyrosine (C99Y) in a large inbred Tunisian pedigree, and (ii) a signal sequence mutation (W15R), which was homozygous in a German family and heterozygous in a Scottish patient. Four ancestral haplotypes were observed in 69 patients from countries around the Mediterranean basin, and an additional haplotype was found in the German and Scottish patients.

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