Publication
Title
Spectrum of mutations in fucosidosis
Author
Abstract
Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardation. It is due to deficient alpha-1-fucosidase activity leading to accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Fucosidosis is extremely rare with less than 100 patients reported worldwide, although the disease occurs at a higher rate in Italy in the Hispanic-American population of New Mexico and Colorado, and in Cuba, We present here a review study of the mutational spectrum of fucosidosis, Exon by exon mutation analysis of FUCA1, the structural gene of alpha-1-fucosidase, has identified the mutation(s) in nearly all fucosidosis patients investigated. The spectrum of the 22 mutations detected to date includes four missense mutations, 17 nonsense mutations consisting of seven stop codon mutations, six small deletions, two large deletions, one duplication, one small insertion and one splice site mutation, All these mutations lead to nearly absent enzymatic activity and severely reduced cross-reacting immunomaterial, The observed clinical variability is, therefore, not due to the nature of the fucosidosis mutation, but to secondary unknown factors.
Language
English
Source (journal)
European journal of human genetics / European Society of Human Genetics. - Leiden
Publication
Leiden : 1999
ISSN
1018-4813
Volume/pages
7:1(1999), p. 60-67
ISI
000079667900009
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 03.01.2013
Last edited 25.07.2017
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