An Overlooked Family with a Rare Mutation for Fabry Disease

Fabry disease is a rare disease with multi-organ involvement caused by GLA gene mutations. Even though more than 1000 mutations have been identified in the GLA gene so far, the detection and reporting of new mutations enriches this data. We report on a patient examined at our clinic due to heart valve disease, with a history of kidney transplantation and hemodialysis. We diagnosed Fabry disease with high clinical suspicion and will describe its significant impact on the family. Thanks to effective family screening, we have identified family members who have not yet been affected, thus preventing or mitigating organ involvement that may develop in the future. Besides its clinical benefits, the mutation identified in this family has been rarely reported before and is still described as a variant of uncertain significance (VUS) in some sources. In this respect, we believe it will contribute to the genetic literature as well.