Author(s): Rolfs, Prof. Arndt, MD, Eichler, Sabrina, PhD, Csanyi, Beata, PhD, Hategan, Lidia, PhD, Nagy, Viktória, MD, Obál, Izabella, PhD, Varga, Edina T., PhD, Borbás, János, MD, Tringer, Annamária, MD, Forster, Tamás, DSc, Sepp, Róbert, MD
Here we report a novel GLA mutation, p.Ile239Met, identified in a large Hungarian three-generation family with FD. Read more in our latest scientific article!
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA mutation, p.Ile239Met, identified in a large Hungarian three-generation family with FD. We conclude that the p.Ile239Met GLA mutation is a pathogenic mutation for FD associated with predominant cardiac phenotype.
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