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
  • 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.