ArticleMolecular genetics and metabolism2010
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor.
Article in Molecular genetics and metabolism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 52 citations in OpenAlex.
- The role of vitamin D receptor signaling in hair follicle health and alopecia: Current understanding and therapeutic implications.Journal of cell communication and signaling · 2026Review
- Genetic Forms of Calciopenic Rickets.The Eurasian journal of medicine · 2022Article
- Hereditary Vitamin-D Dependent Rickets Type II: A Case Report.JNMA; journal of the Nepal Medical Association · 2021Article
- Review
- Vitamin D-Resistant Rickets and Cinacalcet-One More Favorable Experience.Frontiers in pediatrics · 2018Article
- Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.Scientific reports · 2017Article
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.Scientific reports · 2017Article
- Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings.International journal of endocrinology and metabolism · 2017Article
- Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets.Bone research · 2016Article
- Relationship of structure and function of DNA-binding domain in vitamin D receptor.Molecules (Basel, Switzerland) · 2015Review
- Article
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese.PloS one · 2015Article
- Mouse and human BAC transgenes recapitulate tissue-specific expression of the vitamin D receptor in mice and rescue the VDR-null phenotype.Endocrinology · 2014Article
- Vitamin D - Dependent Rickets, Type II Case Report.Materia socio-medica · 2014Article
- Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.Molecular genetics and metabolism · 2014Article
- Renal rickets-practical approach.Indian journal of endocrinology and metabolism · 2013Review
- Cell-autonomous regulation of brown fat identity gene UCP1 by unliganded vitamin D receptor.Molecular endocrinology (Baltimore, Md.) · 2013Article
- The role of the vitamin D receptor and ERp57 in photoprotection by 1α,25-dihydroxyvitamin D3.Molecular endocrinology (Baltimore, Md.) · 2012Article
- The role of vitamin D receptor mutations in the development of alopecia.Molecular and cellular endocrinology · 2011Review
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene.Endocrine · 2011Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
The rare genetic recessive disease, hereditary vitamin D resistant rickets (HVDRR), is caused by mutations in the vitamin D receptor (VDR) that result in resistance to the active hormone 1,25-dihydroxyvitamin D(3) (1,25(OH)(2)D(3) or calcitriol). In this study, we examined the VDR from a young boy with clinical features of HVDRR including severe rickets, hypocalcemia, hypophosphatemia and partial alopecia. The pattern of alopecia was very unusual with areas of total baldness, adjacent to normal hair and regions of scant hair. The child failed to improve on oral calcium and vitamin D therapy but his abnormal chemistries and his bone X-rays normalized with intravenous calcium therapy. We found that the child was homozygous for a unique missense mutation in the VDR gene that converted valine to methionine at amino acid 26 (V26M) in the VDR DNA-binding domain (DBD). The mutant VDR was studied in the patient's cultured skin fibroblasts and found to exhibit normal [(3)H]1,25(OH)(2)D(3) binding and protein expression. However, the fibroblasts were unresponsive to treatment with high concentrations of 1,25(OH)(2)D(3) as demonstrated by their failure to induce CYP24A1 gene expression, a marker of 1,25(OH)(2)D(3) responsiveness. We recreated the V26M mutation in the WT VDR and showed that in transfected COS-7 cells the mutation abolished 1,25(OH)(2)D(3)-mediated transactivation. The mutant VDR exhibited normal ligand-induced binding to RXRalpha and to the coactivator DRIP205. However, the V26M mutation inhibited VDR binding to a consensus vitamin D response element (VDRE). In summary, we have identified a novel V26M mutation in the VDR DBD as the molecular defect in a patient with HVDRR and an unusual pattern of alopecia.
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