title: Fabry disease: 20 novel GLA mutations in 35 families.
abstract: Thirty two mutations have been found in 35 unrelated patients of European origin with Fabry disease, including 8 females. Twenty of the mutations are novel and comprise of 13 missense: H46Y, W47G, R49P, C94S, F113S, G258R, P259R, Q279H, Q280H, R363H, A377D, P409A, P409T; 1 nonsense: L294X; 5 small deletions: 154delT, 520delT, 909-918del10, 1152-1153delCA, 1235-1236delCT and 1 splice site mutation: IVS5+2t-->c. The remaining 12 mutations have all been reported previously. All patients with deletions had the classic form of the disease but it was not possible to predict the phenotype from the missense mutations.
authors.affiliation: Biochemistry, Endocrinology and Metabolism and Clinical and Molecular Genetics Units, Institute of Child Health at Great Ormond Street Hospital, University College London, 30 Guilford Street, London WC1N 1EH, UK.
authors.forename: D
authors.initials: D
authors.lastname: Blaydon
authors.forename: J
authors.initials: J
authors.lastname: Hill
authors.forename: B
authors.initials: B
authors.lastname: Winchester
mesh_terms: D004252:DNA Mutational Analysis; D005060:Europe; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase