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Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

✍ Scribed by Ellen Schäfer; Karin Baron; Urs Widmer; Patrick Deegan; Hartmut P.H. Neumann; Gere Sunder-Plassmann; Jan-Ove Johansson; Catharina Whybra; Markus Ries; Gregory M. Pastores; Atul Mehta; Michael Beck; Andreas Gal

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
207 KB
Volume
25
Category
Article
ISSN
1059-7794

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✦ Synopsis

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.

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