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
Details
Serval ID
serval:BIB_18C0A867F704
Type
Article: article from journal or magazin.
Collection
Publications
Institution
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
Journal
Journal of Investigative Dermatology
ISSN
0022-202X (Print)
Publication state
Published
Issued date
03/2003
Volume
120
Number
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
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.
Keywords
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
Yes
Create date
25/01/2008 17:36
Last modification date
20/08/2019 13:49