Genetic Defect in<i>CYP24A1</i>, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia

Abstract

Our study confirms that CYP24A1 plays a causal role in some but not all cases of IIH via markedly increased intestinal absorption of calcium, suggesting that genetic diagnosis could be helpful in a subset of IIH patients. This case demonstrates the power of an unbiased, genome-wide approach accompanied by informative physiological studies to provide new insights into human biology.