Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
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.
Schäfer
Ellen
E
Institute of Human Genetics, University Hospital Eppendorf, Hamburg, Germany.
Baron
Karin
K
Widmer
Urs
U
Deegan
Patrick
P
Neumann
Hartmut P H
HP
Sunder-Plassmann
Gere
G
Johansson
Jan-Ove
JO
Whybra
Catharina
C
Ries
Markus
M
Pastores
Gregory M
GM
Mehta
Atul
A
Beck
Michael
M
Gal
Andreas
A
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*
D000519:alpha-Galactosidase