PTH and Hypocalciuria: Indeed, the daughter of case 4 does not have the SLC9A3R1 variant and has normal PTH levels, while family members of case 7 have hypocalciuria and the variant in VDR, but not in CNNM2. However, no variants in known PTH/Ca2+ genes were found in case 6 and previous reports of individuals with CNNM2 variants have also observed hyperparathyroidism3, hypocalciuria1,3 and/or hypocalcaemia5,7,10, while increased serum Ca2+ is observed in Cnnm2+/− mice16.