PMC6826774_01
The pedigree of this family was compatible with autosomal dominant inheritance of hypercalcaemia.. The proband is indicated by an arrow. The phenotype (plasma calcium concentration) as well as genotype of both parents of the proband is unknown. The plasma calcium concentration of the son of the proband [III(2)] was normal and targeted
AP2S1 mutation analysis was negative. The calcium status of the baby boy of III(1) was not available and it was omitted from the pedigree.
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After failing parathyroidectomy twice, the patient realized for the first time that her elder brother and her elder brother's daughter also had incidental findings of hypercalcaemia (See Figure 1 for the pedigree and Table 1 for the summary of biochemical results).