Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.

OBJECTIVES: Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD). DESIGN AND METHODS: We carried out high resolution melting analysis (HRM) and DNA sequencing of all the exons of the GLA gene. We also assayed the alpha-galactosidase A activity in patients' blood. RESULTS: In some members of one family, we identified a new mutation in the GLA gene, c.614delC. This is a deletion of a single nucleotide, a cytosine, in exon 4 of the gene which causes a frameshift mutation. CONCLUSIONS: Patients with the c.614delC mutation show classical clinical manifestations of FD, and the male patient has no alpha-galactosidase A activity. These data suggest that c.614delC is a novel mutation associated with FD.