title: Five novel mutations in fourteen patients with Fabry Disease.
abstract: Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A. The mutations responsible for Fabry disease are diverse and include large rearrangements as well as single base substitutions, and they are dispersed throughout the seven exons of the gene. In this study, we found five novel mutations in four different exons. We have detected the mutations by the PCR-SSCP method and then analysed them by direct sequencing. Three of the novel mutations were deletions: 1205delA, 1238del26 and 5236del18. We also found one novel nonsense mutation: W162X. The final novel mutation was an insertion combined with a deletion: 10995ins24del4.
authors.affiliation: Institute of Medical Biochemistry and Genetics, Department of Genetics, Blegdamsvej 3, DK-2200 Copenhagen, Denmark.
authors.forename: K M
authors.initials: KM
authors.lastname: Rosenberg
authors.forename: R
authors.initials: R
authors.lastname: Schiffmann
authors.forename: C
authors.initials: C
authors.lastname: Kaneski
authors.forename: R O
authors.initials: RO
authors.lastname: Brady
authors.forename: S A
authors.initials: SA
authors.lastname: Sorensen
authors.forename: L
authors.initials: L
authors.lastname: Hasholt
mesh_terms: D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase