@article {Pestanae239204, author = {Maria Nicole Pestana and Francisca Gomes da Silva and Jos{\'e} Dur{\~a}es and Gil Silva}, title = {Novel GLA T194A variant causes Fabry disease}, volume = {14}, number = {3}, elocation-id = {e239204}, year = {2021}, doi = {10.1136/bcr-2020-239204}, publisher = {BMJ Specialist Journals}, abstract = {Fabry disease (FD) is an X-linked, systemic lysosomal deposition disease caused by alpha-galactosidase A (AGAL) enzyme deficiency deriving out of changes on the GLA gene. Though several mutations have been described, one must consider that even a specific mutation may present with variable clinical expression within the same family. Typically described as a disease that affects hemizygous men with no residual AGAL activity, we describe a novel FD mutation (first case of GLA T194A variant worldwide) in a 49-year-old woman presenting with a classic phenotype of FD. The patient investigation highlighted a previously not described mutation in exon 4 of the GLA gene, as for the substitution of threonine for alanine. The same mutation was identified in her children, one of them presenting with end-stage kidney disease (ESKD) in early adulthood.}, URL = {https://casereports.bmj.com/content/14/3/e239204}, eprint = {https://casereports.bmj.com/content/14/3/e239204.full.pdf}, journal = {BMJ Case Reports CP} }