Spectrum of mutations in fucosidosis

Fucosidosis is a lysosomal storage disorder characterised by progressive ps ychomotor deterioration, angiokeratoma and growth retardation. It is due to deficient alpha-1-fucosidase activity leading to accumulation of fucose-co ntaining glycolipids and glycoproteins in various tissues. Fucosidosis is e xtremely rare with less than 100 patients reported worldwide, although the disease occurs at a higher rate in Italy in the Hispanic-American populatio n of New Mexico and Colorado, and in Cuba, We present here a review study o f the mutational spectrum of fucosidosis, Exon by exon mutation analysis of FUCA1, the structural gene of alpha-1-fucosidase, has identified the mutat ion(s) in nearly all fucosidosis patients investigated. The spectrum of the 22 mutations detected to date includes four missense mutations, 17 nonsens e mutations consisting of seven stop codon mutations, six small deletions, two large deletions, one duplication, one small insertion and one splice si te mutation, All these mutations lead to nearly absent enzymatic activity a nd severely reduced cross-reacting immunomaterial, The observed clinical va riability is, therefore, not due to the nature of the fucosidosis mutation, but to secondary unknown factors.