ArticleMolecular genetics and metabolism2014
Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Article in Molecular genetics and metabolism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Genotypic Spectrum and its Correlation with Alopecia and Clinical Response in Hereditary Vitamin D Resistant Rickets: Our Experience and Systematic Review.Calcified tissue international · 2023Pooled it
- A case of vitamin D-dependent rickets type 2A presenting with hypophosphatemia without hypocalcemia.JCEM case reports · 2026Article
- Genetic background of infantile hypophosphatemia: a narrative review.Translational pediatrics · 2026Review
- Long-term Western diet feeding impairs hepatic vitamin D metabolism and promotes bone loss in mice.EXCLI journal · 2026Article
- Beyond Nutritional Deficiency: Persistent Rickets as a Manifestation of Vitamin D-Dependent Rickets Type II in a Toddler.Clinical case reports · 2025Article
- Dysregulation and gene polymorphisms of Vitamin D receptor: its implications in lipid metabolic disorders.Molecular biology reports · 2025Review
- Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D-dependent rickets type 2A: A case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Article
- Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy.Pediatric endocrinology, diabetes, and metabolism · 2024Article
- Hereditary Rickets: A Quick Guide for the Pediatrician.Current pediatric reviews · 2024Review
- Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Reduced vitamin D-induced cathelicidin production and killing ofFrontiers in immunology · 2022Article
- Integrated View on the Role of Vitamin D Actions on Bone and Growth Plate Homeostasis.JBMR plus · 2021Article
- Normal T and B Cell Responses Against SARS-CoV-2 in a Family With a Non-Functional Vitamin D Receptor: A Case Report.Frontiers in immunology · 2021Article
- Impaired Vitamin D Signaling in T Cells From a Family With Hereditary Vitamin D Resistant Rickets.Frontiers in immunology · 2021Article
- Vitamin D Metabolism and Profiling in Veterinary Species.Metabolites · 2020Review
- New aspects of vitamin D metabolism and action - addressing the skin as source and target.Nature reviews. Endocrinology · 2020Review
- New developments in our understanding of vitamin metabolism, action and treatment.Metabolism: clinical and experimental · 2019Review
- Article
- Biology and Mechanisms of Action of the Vitamin D Hormone.Endocrinology and metabolism clinics of North America · 2017Review
- Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.Scientific reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
Abstract
contextHereditary vitamin D resistant rickets (HVDRR), also known as vitamin D-dependent rickets type II, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused by mutations in the vitamin D receptor (VDR) gene. The human gene encoding the VDR is located on chromosome 12 and comprises eight coding exons and seven introns. OBJECTIVES, PATIENTS, AND
methodsWe analyzed the VDR gene of 5 previously unreported patients, two from Singapore and one each from Macedonia (former Yugoslav Republic), Saudi Arabia and Turkey. Each patient had clinical and radiographic features of rickets, hypocalcemia, and the 4 cases that had the measurement showed elevated serum concentrations of 1,25-dihydroxyvitamin D (1,25(OH)(2)D). Mutations were re-created in the WT VDR cDNA and examined for 1,25(OH)(2)D(3)-mediated transactivation in COS-7 monkey kidney cells.
resultsDirect sequencing identified four novel mutations and two previously described mutations in the VDR gene. The novel mutations included a missense mutation in exon 3 causing the amino acid change C60W; a missense mutation in exon 4 causing the amino acid change D144N; a missense mutation in exon 7 causing the amino acid change N276Y; and a 2bp deletion in exon 3 5'-splice site (IVS3∆+4-5) leading to a premature stop.
conclusionsThese 4 unique mutations add to the previous 45 mutations identified in the VDR gene in patients with HVDRR.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.