Case Presentation: Functional Assessment of a <i>CASR</i> Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism

<div>Dose response curves for wild type, L34P variant, and a known inactivating (L174R) variant CaSR using the IP-One ELISA assay following Ca<sup>++</sup> ion (1.5, 2.5, 4, 7, or 10 mM) stimulation in HEK293 cells. The IP-One ELISA assay was performed as described previously (see reference 18). Values represent the mean % stimulation (with ±2x standard error of the mean error bars) plotted against Ca<sup>++</sup> ion concentration for three separate experiments. Calculation of % stimulation and statistical comparisons between the wild type and variant receptors were as described in reference 18.</div>

Case Reports in Endocrinology

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Figure 2: Case Presentation: Functional Assessment of a <i>CASR</i> Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism 

Figure 2 | Case Presentation: Functional Assessment of a CASR Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism 