Five novel mutations in fourteen patients with Fabry disease Communicated by: Daniel F. Schorderet Online Citation: Human Mutation, Mutation in Brief #292 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/292.pdf

Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A. The mutations responsible for Fabry disease are diverse and include large rearrangements as well as single base substitutions, and they are dispersed throughout the seven exons of the gene. In this study, we found five novel mutations in four different exons. We have detected the mutations by the PCR-SSCP method and then analysed them by direct sequencing. Three of the novel mutations were deletions: 1205delA, 1238del26 and 5236del18. We also found one novel nonsense mutation: W162X. The final novel mutation was an insertion combined with a deletion: 10995ins24del4. Hum Mutat 15:207–208, 2000. © 2000 Wiley-Liss, Inc.