One female patient who exhibited mild hypercalcemia, low PTH (8.6 pg/mL), normal 25OHD, and hypocalciuria was found to carry a de novo heterozygote mutation of the CaSR gene (p.994delK (C.2981del AGA) and was diagnosed as a case of familial hypocalciuric hypercalcemia (FHH). This evidence concerns the gene CASR and hypercalcemia disease.