Subsequent investigations were done and revealed hypercalcemia [serum calcium of 18 mg dL-1, ionized calcium (iCa2+) 4.08 mmol L-1, serum PTH 971 pg mL-1 (range 15-65 pg mL-1)], and hyperkalemia (serum potassium 6.3 mEq L-1). The gene discussed is PTH; the disease is hypercalcemia disease.