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Article

Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1.

Nutrients - 6 Aug 2022

St-Arnaud René, Arabian Alice, Kavame Dila, Kaufmann Martin, Jones Glenville

Abstract excerpt

Infantile hypercalcemia type 1 (HCINF1), previously known as idiopathic infantile hypercalcemia, is caused by mutations in the 25-hydroxyvitamin D 24-hydroxylase gene, CYP24A1. The R396W loss-of-function mutation in CYP24A1 is the second most frequent mutated allele observed in affected HCINF1 patients. We have introduced the site-specific R396W mutation within the murine Cyp24a1 gene in knock-in mice to generate...

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PMID: 35956396
DOI: 10.3390/nu14153221
PMCID: PMC9370611

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