Whole exome sequencing (Baylor Genetics, Texas, USA) showed a previously reported heterozygous Arg15Cys (c.43 C˃T, p.R15C, chr19: 47,349,360) pathogenic variant in the AP2S1 gene, characteristic of FHH type-3. Here, AP2S1 is linked to Familial hypocalciuric hypercalcemia type 3.