Ca2+ 2.0-2.6 Son 1 Son 2 Son 3 Proband 2001 Proband 2004 Elamin and de Buyl Journal of Medical Case Reports 2010, 4:349 http://www.jmedicalcasereports.com/content/4/1/349 Table 1 Clinical chemistry and mutations Normal values and units mmol/L Corrected for albumin 0.8-1.5 mmol/L Page 3 of 5 P Fexc Ca2+ Creatinine clearance PTH CaSR A213E mutation 3.35 3.03 2.98 2.91 2.40 0.67 0.90 0.86 0.73 0.93 0.0035 0.0084 0.0044 0.0094 ml/’ 44 48 80.8 97.8 90.2 10-55 ng/L 140 20 68 38 Absent Present Present Present Absent Serum calcium, phosphate, fraction of excreted calcium (calcium clearance/creatinine clearance ratio), creatinine clearance, PTH, and the presence or absence of the mutation. Figure 1 Heterozygosity for a C > A transversion at point 213 of the CaSR gene of the proband. Figure 2 Heterozygosity for a C > A transversion at point 213 of the CaSR gene in one of the affected sons of the proband.