Fabry disease: Evidence for a regional founder effect of the gene mutation 30delG in Brazilian patients.

The Fabry disease is caused by mutations in the gene () that encodes the enzyme α-galactosidase A (α-Gal A). More than 500 pathologic variants of have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion ( 30delG) was identified among four families that do not recognize any common ancestral.