title: 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.
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.
authors.affiliation: CHU Heidi Chaker, Department of Dermatology, Sfax, Tunisia.
authors.forename: Slaheddine
authors.initials: S
authors.lastname: Marrakchi
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Audebert
authors.forename: Bakar
authors.initials: B
authors.lastname: Bouadjar
authors.forename: Christina
authors.initials: C
authors.lastname: Has
authors.forename: Caroline
authors.initials: C
authors.lastname: Lefèvre
authors.forename: Colin
authors.initials: C
authors.lastname: Munro
authors.forename: Susan
authors.initials: S
authors.lastname: Cure
authors.forename: Florence
authors.initials: F
authors.lastname: Jobard
authors.forename: Susanne
authors.initials: S
authors.lastname: Morlot
authors.forename: Daniel
authors.initials: D
authors.lastname: Hohl
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Prud'homme
authors.forename: Abdelmadjid
authors.initials: A
authors.lastname: Zahaf
authors.forename: Hamida
authors.initials: H
authors.lastname: Turki
authors.forename: Judith
authors.initials: J
authors.lastname: Fischer
mesh_terms: D000368:Aged; D000950:Antigens, Ly / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D017124:Conserved Sequence / Q000235:genetics; D003545:Cysteine; D005260:Female; D018703:Founder Effect; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D021382:Protein Sorting Signals; D014443:Tyrosine; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics*
chemical_list: D000950:Antigens, Ly; D021382:Protein Sorting Signals; C048963:SLURP1 protein, human; D014443:Tyrosine; D014568:Urokinase-Type Plasminogen Activator; D003545:Cysteine