Table 1.

Genotypes and phenotypes of five patients with AP2S1 variants from the DiscovEHR cohort

Nucleotide change	Predicted change	Sexa	Age (years)	Total serum calcium adjusted for albumin (mg/dL)b,c	Co-existing clinical conditions
c.44G>A	Arg15His	F	72	10.06	Polycystic kidney disease, hypothyroidism, hypertension, diabetes mellitus type 2, vitamin D deficiency, osteoporosis
c.44G>A	Arg15His	F	68	10.08	Multiple sclerosis, vitamin D deficiency, osteoporosis, obesity
c.44G>A	Arg15His	F	73	9.80	Pituitary tumour, asthma
c.155G>A	Phe52Tyr	F	53	9.56	Obesity, vitamin D deficiency, hypothyroidism
c.350G>T	Met117Ile	F	34	10.10d	—e

^aF, female.

^bSerum calcium normal range = 8.30–10.00 mg/dL, which is defined as the mean ± 2 standard deviations (SD). Hypercalcaemia is defined as a serum calcium concentration greater than 2 SDs above the normal mean, and hypercalcaemia is generally considered to be mild, moderate or severe for serum calcium concentrations that are >10.00 mg/dL but ≤12.00 mg/dL, between 12.01 and 14.00 mg/dL, and ≥14.01 mg/dL, respectively (40). The serum calcium concentrations are adjusted or ‘corrected’ to a reference (usually the mean for the normal population) albumin concentration, because ∼50% of total serum calcium is bound to albumin, and thus variations in serum albumin concentration can affect total serum calcium concentrations (40). The formula used to derive the total serum calcium concentration adjusted for albumin is: adjusted total serum calcium concentration = measured total serum calcium + [0.8 × (4.0 – measured total serum albumin concentrations)] (40).

^cThe initial serum calcium value obtained from ambulatory patients in the outpatient department is shown.

^dSerum albumin is not available for this patient, and the uncorrected total serum calcium concentration is shown.

^e—, clinical details not available.