Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease / 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, and Andreas Gal

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.

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Persons: Schäfer, Ellen [Author]; Baron, Karin [Author]; Widmer, Urs [Author]; Deegan, Patrick [Author]; Neumann, Hartmut P. H. [Author]; Sunder-Plassmann, Gere [Author]; Johansson, Jan-Ove [Author]; Whybra-Trümpler, Catharina [Author]; Ries, Markus [Author]; Pastores, Gregory M. [Author]; Mehta, Atul B. [Author]; Beck, Michael [Author]; Gal, Andreas [Author]
Format: eArticle
Language(s):English
Publication:17 March 2005
Part of:Human mutation 25(2005), 4, Seite 412-418
Subjects:Fabry disease
GLA
lysosomal enzyme
storage disorder
α-galactosidase A
Notes:Gesehen am 16.05.2019
Physical description:7
ISSN:1098-1004
DOI:10.1002/humu.9327