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Thirty‐four novel mutations of the GLA gene in 121 patients with Fabry disease
Author(s) -
Schäfer Ellen,
Baron Karin,
Widmer Urs,
Deegan Patrick,
P.H. Neumann Hartmut,
SunderPlassmann Gere,
Johansson JanOve,
Whybra Catharina,
Ries Markus,
M. Pastores Gregory,
Mehta Atul,
Beck Michael,
Gal Andreas
Publication year - 2005
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9327
Subject(s) - missense mutation , biology , point mutation , nonsense mutation , genetics , fabry disease , gene , mutation , nonsense , splice , microbiology and biotechnology , disease , medicine
Fabry disease (FD) is an X‐chromosomal disorder caused by mutations in the GLA gene encoding the lysosomal enzyme α‐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. © 2005 Wiley‐Liss, Inc.