The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Mutations in CYP24A1 and Idiopathic Infantile Hypercalcemia
Open accessAbstract
BACKGROUND: Vitamin D supplementation for the prevention of rickets is one of the oldest and most effective prophylactic measures in medicine, having virtually eradicated rickets in North America. Given the potentially toxic effects of vitamin D, the recommendations for the optimal dose are still debated, in part owing to the increased incidence of idiopathic infantile hypercalcemia in Britain in the 1950s during a period of high vitamin D supplementation in fortified milk products. We investigated the molecular basis of idiopathic infantile hypercalcemia, which is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. METHODS: We used a candidate-gene approach in a cohort of familial cases of typical idiopathic infantile hypercalcemia with suspected autosomal recessive inheritance. Identified mutations in the vitamin D-metabolizing enzyme CYP24A1 were evaluated with the use of a mammalian expression system. RESULTS: Sequence analysis of CYP24A1, which encodes 25-hydroxyvitamin D 24-hydroxylase, the key enzyme of 1,25-dihydroxyvitamin D(3) degradation, revealed recessive mutations in six affected children. In addition, CYP24A1 mutations were identified in a second cohort of infants in whom severe hypercalcemia had developed after bolus prophylaxis with vitamin D. Functional characterization revealed a complete loss of function in all CYP24A1 mutations. CONCLUSIONS: The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia and is a genetic risk factor for the development of symptomatic hypercalcemia that may be triggered by vitamin D prophylaxis in otherwise apparently healthy infants.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Endocrine functions of bone in mineral metabolism regulation
Quarles, L. D. (2008) · Journal of Clinical Investigation · doi:10.1172/jci36479 · Cited by 459
Cited by
Vitamin D metabolism, mechanism of action, and clinical applications
Bikle, D. D. (2014) · Chemistry & Biology · doi:10.1016/j.chembiol.2013.12.016 · Cited by 1,933
Vitamin D for health: a global perspective
Hossein-nezhad, A., & Holick, M. F. (2013) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2013.05.011 · Cited by 1,298
Molecular Mechanisms of Vitamin D Action
Haussler, M. R., Whitfield, G. K., Kaneko, I., Haussler, C. A., Hsieh, D., Hsieh, J.-C., & Jurutka, P. W. (2013) · Calcified Tissue International · doi:10.1007/s00223-012-9619-0 · Cited by 759
Vitamin D-effects on skeletal and extraskeletal health and the need for supplementation
Wacker, M., & Holick, M. (2013) · Nutrients · doi:10.3390/nu5010111 · Cited by 733
The roles of vitamin D in skeletal muscle: form, function, and metabolism
Girgis, C. M., Clifton-Bligh, R. J., Hamrick, M. W., Holick, M. F., & Gunton, J. E. (2013) · Endocrine Reviews · doi:10.1210/er.2012-1012 · Cited by 567
Human cytochromes P450 in health and disease
Nebert, D. W., Wikvall, K., & Miller, W. L. (2013) · Philosophical Transactions of the Royal Society B: Biological Sciences · doi:10.1098/rstb.2012.0431 · Cited by 505
Consensus statement on vitamin D status assessment and supplementation: Whys, whens, and hows
Giustina, A., Bilezikian, J. P., Adler, R. A., Banfi, G., Bikle, D. D., Binkley, N. C., Bollerslev, J., Bouillon, R., Brandi, M. L., Casanueva, F. F., et al. (2024) · Endocrine Reviews · doi:10.1210/endrev/bnae009 · Cited by 392
Self-citationSempos, C. T., Heijboer, A. C., Bikle, D. D., Bollerslev, J., Bouillon, R., Brannon, P. M., DeLuca, H. F., Jones, G., Munns, C. F., Bilezikian, J. P., et al. (2018) · British Journal of Clinical Pharmacology · doi:10.1111/bcp.13652 · Cited by 331
Self-citationde Klein, N., Tsai, E. A., Vochteloo, M., Baird, D., Huang, Y., Chen, C.-Y., van Dam, S., Oelen, R., Deelen, P., Bakker, O. B., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01300-6 · Cited by 272
History of the discovery of vitamin D and its active metabolites
DeLuca, H. F. (2014) · BoneKEy Reports · doi:10.1038/bonekey.2013.213 · Cited by 249
Drug-induced kidney stones and crystalline nephropathy: pathophysiology, prevention and treatment
Daudon, M., Frochot, V., Bazin, D., & Jungers, P. (2018) · Drugs · doi:10.1007/s40265-017-0853-7 · Cited by 191
Rapid Normalization of Vitamin D Levels: A Meta-Analysis
McNally, J. D., Iliriani, K., Pojsupap, S., Sampson, M., O’Hearn, K., McIntyre, L., Fergusson, D., & Menon, K. (2015) · Pediatrics · doi:10.1542/peds.2014-1703 · Cited by 85
Kägi, L., Bettoni, C., Pastor-Arroyo, E. M., Schnitzbauer, U., Hernando, N., & Wagner, C. A. (2018) · PLOS ONE · doi:10.1371/journal.pone.0195427 · Cited by 46
Genetic variants predisposing to an increased risk of kidney stone disease
Lovegrove, C. E., Goldsworthy, M., Haley, J., Smelser, D., Gorvin, C., Hannan, F. M., Mahajan, A., Suri, M., Sadeghi-Alavijeh, O., Moochhala, S. H., et al. (2025) · Journal of Clinical Investigation · doi:10.1172/jci186915 · Cited by 18
Metadata
- Authors
- Schlingmann, K. P., Kaufmann, M., Weber, S., Irwin, A., Goos, C., John, U., Misselwitz, J., Klaus, G., Kuwertz-Bröking, E., Fehrenbach, H., Wingen, A. M., Güran, T., Hoenderop, J. G., Bindels, R. J., Prosser, D. E., Jones, G., & Konrad, M.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2011-08-04
- Volume
- 365
- Issue
- 5
- Pages
- 410-421
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2125793849
- Cited by
- 691
- References
- 1
- FWCI
- 31.81
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
