Mutational analysis of the GNA11 gene in additional FHH probands, who did not harbour CASR mutations, has identified heterozygous Leu135Gln and Thr54Met missense mutations in two unrelated probands (Nesbit et al. 2013a, Gorvin et al. 2016). The gene discussed is GNA11; the disease is familial hypocalciuric hypercalcemia.