ArticleEndocrine connections2020
Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.
Article in Endocrine connections, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Gestational hypercalcemia: a narrative review of literature.Frontiers in medicine · 2026Review
- A scalable approach for genomic-first rare disorder detection in a healthcare-based population.American journal of human genetics · 2025Article
- Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygousJournal of rare diseases (Berlin, Germany) · 2025Article
- Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.Orphanet journal of rare diseases · 2024Article
- A Pregnant Woman With Hypercalcemia-Induced Acute Pancreatitis.Kidney international reports · 2023Article
- Placental cytochrome P450 methylomes in infants exposed to prenatal opioids: exploring the effects of neonatal opioid withdrawal syndrome on health horizons.Frontiers in genetics · 2023Article
- Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature.Nutrients · 2022Review
- Hypercalcemia and CYP24A1 Gene Mutation Diagnosed in the 2nd Trimester of a Twin Pregnancy: A Case Report.The American journal of case reports · 2021Article
- Vitamin D and SARS-CoV-2 infection-evolution of evidence supporting clinical practice and policy development : A position statement from the Covit-D Consortium.Irish journal of medical science · 2021Article
- Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up.Frontiers in pediatrics · 2021Article
- Vitamin D Toxicity Managed with Peritoneal Dialysis.Case reports in endocrinology · 2021Article
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionInactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-severe hypercalcaemia, hypercalciuria, nephrocalcinosis and nephrolithiasis. This study aimed to characterize the clinical and biochemical phenotypes of a family with two CYP24A1 missense variants.
methodsThe proband and seven family members underwent detailed clinical and biochemical evaluation. Laboratory measurements included serum calcium, intact parathyroid hormone (iPTH), vitamin D metabolites and urine calcium and creatinine.
resultsThe proband presented during the second trimester of a planned pregnancy with flu-like symptoms. Laboratory tests showed elevated adjusted calcium of 3.27 (upper reference limit (URL: 2.30) mmol/L), suppressed iPTH (<6 ng/L), elevated 25(OH)D (264 (URL: 55) nmol/L) and elevated 1,25(OH)D (293 (URL: <280) pmol/L). Ionized calcium was 1.55 (URL: 1.28) mmol/L. Sanger sequencing revealed two heterozygous missense variants in the CYP24A1: p.(Arg439Cys), R439C and p.(Trp275Arg), W275R. The proband's brother and sister had the same genotype. The brother had intermittent hypercalcaemia and hypervitaminosis D. Only the sister had a history of nephrolithiasis. The proband's daughter and two nephews were heterozygous for the R439C variant. The proband and her brother frequently had elevated 25(OH)D:24,25(OH)2D ratios (>50) during follow-up.
conclusionsW275R is a new pathogenic CYP24A1 mutation in compound heterozygotic form with R439C in this family.
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