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.
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.
Marrakchi
Slaheddine
S
CHU Heidi Chaker, Department of Dermatology, Sfax, Tunisia.
Audebert
Stéphanie
S
Bouadjar
Bakar
B
Has
Christina
C
Lefèvre
Caroline
C
Munro
Colin
C
Cure
Susan
S
Jobard
Florence
F
Morlot
Susanne
S
Hohl
Daniel
D
Prud'homme
Jean-François
JF
Zahaf
Abdelmadjid
A
Turki
Hamida
H
Fischer
Judith
J
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*
D000950:Antigens, Ly; D021382:Protein Sorting Signals; C048963:SLURP1 protein, human; D014443:Tyrosine; D014568:Urokinase-Type Plasminogen Activator; D003545:Cysteine