The diagnosis of GS is proven by identification of biallelic inactivating mutations of the SLC12A3 gene, which encodes for the thiazide-sensitive sodium-chloride cotransporter in the distal convoluted tubules.[6,7] To date, more than 180 mutations of the SLC12A3 gene, both exonic and intronic, have been reported in patients with GS.[3,8]. This evidence concerns the gene SLC12A3 and Gerstmann syndrome.