title: Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
abstract: Fabry disease (FD) is an X-chromosomal disorder caused by mutations in the GLA gene encoding the lysosomal enzyme alpha-galactosidase A. We performed mutation screening on a cohort of 121 patients including 84 male and 37 female index cases and identified a total of 90 different mutations, 34 of which are reported for the first time here. Both point mutations (74.4%) and 'short length' rearrangements (25.6%) were found, including missense (54.4%), nonsense (14.4%), and splice site point mutations (5.6%), deletions (17.8%) or insertions/duplications (5.6%) of a few nucleotides, and complex rearrangements including larger deletions (2.2%). GLA mutations were identified in 82 (97.6%) of the 84 unrelated male patients.
authors.affiliation: Institute of Human Genetics, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Ellen
authors.initials: E
authors.lastname: Schäfer
authors.forename: Karin
authors.initials: K
authors.lastname: Baron
authors.forename: Urs
authors.initials: U
authors.lastname: Widmer
authors.forename: Patrick
authors.initials: P
authors.lastname: Deegan
authors.forename: Hartmut P H
authors.initials: HP
authors.lastname: Neumann
authors.forename: Gere
authors.initials: G
authors.lastname: Sunder-Plassmann
authors.forename: Jan-Ove
authors.initials: JO
authors.lastname: Johansson
authors.forename: Catharina
authors.initials: C
authors.lastname: Whybra
authors.forename: Markus
authors.initials: M
authors.lastname: Ries
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Pastores
authors.forename: Atul
authors.initials: A
authors.lastname: Mehta
authors.forename: Michael
authors.initials: M
authors.lastname: Beck
authors.forename: Andreas
authors.initials: A
authors.lastname: Gal
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase