AP2S1 and hypercalcemia disease: Exon sequencing of hereditary hypercalcemia-related genes (e.g., MEN1, CDKN1B, RET, CASR, GNA11, AP2S1, CDC73, GCM2) was performed and a pathogenic CASR mutation (CASR: NM_000388.4: exon2: c.164C > T: p. Pro55Leu) was noted in her father (I-1), brother (II-1), and the proband (II-3) (Fig. 2B), but no mutation in GNA11 and AP2S1 was identified.