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
Détails
ID Serval
serval:BIB_18C0A867F704
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
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
Périodique
Journal of Investigative Dermatology
ISSN
0022-202X (Print)
Statut éditorial
Publié
Date de publication
03/2003
Volume
120
Numéro
3
Pages
351-5
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Mar
Research Support, Non-U.S. Gov't --- Old month value: Mar
Résumé
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.
Mots-clé
Aged
Antigens, Ly/*genetics
Base Sequence/genetics
Conserved Sequence/genetics
Cysteine
Female
Founder Effect
*Haplotypes
Heterozygote
Homozygote
Humans
Infant
Infant, Newborn
Keratoderma, Palmoplantar/*genetics/pathology
Male
Molecular Sequence Data
*Mutation/genetics
Pedigree
Protein Sorting Signals
Tyrosine
Urinary Plasminogen Activator/*genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 17:36
Dernière modification de la notice
20/08/2019 13:49