Indeed the phenotype of the patient with the E68A mutation, which associates kidney stones, renal phosphate wasting, a rise in calcitriol concentration, increased urinary calcium excretion, low PTH levels and the absence of modification of PTH signaling by the mutant, is very similar to that observed in NHERF1 knock-out mice [12]. The gene discussed is NHERF1; the disease is nephrolithiasis.