title: Spectrum of mutations in fucosidosis.
abstract: Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardation. It is due to deficient alpha-l-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-l-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.
authors: Department of Medical Genetics, University of Antwerp, Belgium.
authors: P J
authors: PJ
authors: Willems
authors: H C
authors: HC
authors: Seo
authors: P
authors: P
authors: Coucke
authors: R
authors: R
authors: Tonlorenzi
authors: J S
authors: JS
authors: O'Brien
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005645:Fucosidosis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic