Rare mutation of CYP24A1 gene results in Vitamin D accumulating

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Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D - 2017

Joint Bone Spine. 2017 Jan 18. pii: S1297-319X(16)30209-3. doi: 10.1016/j.jbspin.2016.11.006

Baudart P1, Molin A2, Cesini J3, Jones G4, Kaufmann M4, Kottler ML5, Marcelli C6.
1Department of Rheumatology, CHU de Caen, avenue Cote de Nacre, 14000 Caen, France. Electronic address: pauline.baudart at live.fr.
2Normandy University, 14032 Caen cedex 5, France; EA2608 Estrogène, Reproduction, Cancer (OeReCa), 14032 Caen, France; Department of Genetics, CHU de Caen, 14000 Caen, France.
3Department of Rheumatology, CHU de Caen, avenue Cote de Nacre, 14000 Caen, France.
4Department of Biomedical and Molecular Sciences, Queen's University, K7L 3N6 Kingston, Ontario, Canada.
5Normandy University, 14032 Caen cedex 5, France; Department of Genetics, CHU de Caen, 14000 Caen, France; UNICAEN, COMETE, 14032 Caen, France; Inserm, U 1075 COMETE, 14032 Caen, France.
6Department of Rheumatology, CHU de Caen, avenue Cote de Nacre, 14000 Caen, France; Normandy University, 14032 Caen cedex 5, France; UNICAEN, COMETE, 14032 Caen, France; Inserm, U 1075 COMETE, 14032 Caen, France.

OBJECTIVE:
Hypersensitivity to vitamin D (HVD) due to a loss of function mutation of the CYP24A1 gene, which encodes vitamin D catabolizing enzyme was initially described as a cause of acute hypercalcemia in children and chronic renal diseases in adults.
METHODS:
We describe the first case of a patient presenting a calcium pyrophosphate deposition disease (CPDD) revealing a HVD.
RESULTS:
An abnormality of phospho-calcic metabolism was discovered during the course of an etiological workup for CPDD in a 52-year-old patient. Laboratory tests revealed a blood calcium level at the upper limit of normal range, a markedly low parathormone level, a 25-hydroxyvitamin D level within the upper level of normal, an elevated 1,25-dihydroxyvitamin D level and an elevated urine calcium level. CYP24A1 gene sequencing analysis revealed two mutations in a heterozygous state. The study of the 25-hydroxyvitamin D3: 24,25-dihydroxyvitamin D3 ratio, two metabolites of vitamin D confirmed the enzyme deficiency in vivo. Our observation suggests that this disease could correspond to a rare cause of CPDD.
CONCLUSION:
In cases of CPDD associated with calcium values within the upper limit of normal range (or hypercalcemia) with an abnormally low PTH, one could suggest searching for HVD.
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Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D - Oct 2021

Occurance varies with type of mutation and population group
1 in 1,000 to 1 in 100,000  PDF

See also Vitamin D non-responders may have one or more poor genes: GC, LIPC, CYP24A1, and PDE3B – Oct 2022

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