Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
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Nikta Forghani
ABSTRACT
1,25-Dihydroxyvitamin D3 (1,25(OH)2D3) an important regulator of bone homeostasis, mediates its actions by binding to the vitamin D receptor (VDR), a nuclear transcription factor. Mutations in the VDR cause the rare genetic disease hereditary vitamin D resistant rickets (HVDRR). In this study, we examined two unrelated young female patients who exhibited severe early onset rickets, hypocalcemia, and hypophosphatemia. Both patients had partial alopecia but with different unusual patterns of scant hair. Sequencing of the VDR gene showed that both patients harbored the same unique nonsense mutation that resulted in a premature stop codon (R50X). Skin fibroblasts from patient #1 were devoid of VDR protein and 1,25(OH)2D3 treatment of these cells failed to induce CYP24A1 gene expression, a marker of 1,25(OH)2D3 action. In conclusion, we identified a novel nonsense mutation in the VDR gene in two patients with HVDRR and alopecia. The mutation truncates the VDR protein and causes 1,25(OH)2D3 resistance.
© Freund Publishing House Ltd. 2010
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Articles in the same Issue
- Selection of Elite Athletes, Hormones and Genes
- Association of Serum Adiponectin Levels with Artherosclerosis and the Metabolic Syndrome in Obese Children
- Septo-optic Dysplasia
- Hyperandrogenism among Elite Adolescent Female Athletes
- Confirmation of Neonatal Screening: Reference Intervals and Evaluation of Methodological Changes in TSH Measurement
- Antihyperlipidemic Agents Cause a Decrease in von Willebrand Factor Levels in Pediatric Patients with Familial Hyperlipidemia
- GHR and VDR Genes do not Contribute to the Growth Hormone (GH) Response in GH Deficient and Turner Syndrome Patients
- Is BaF3 Bioassay Useful to Identify Patients with Bioinactive Growth Hormone?
- Genital Surgery for Disorders of Sex Development: Implementing a Shared Decision-Making Approach
- Mean Platelet Volume in Obese Adolescents with Nonalcoholic Fatty Liver Disease
- Congenital Hypothyroidism: Etiology
- Familial Hyperinsulinism-Hyperammonemia Syndrome in a Family with Seizures: Case Report
- Genital Sanguineous Discharge in Prepuberty: A Case of Mullerian Papilloma of Vagina in a 9 Year-Old Girl
- Glycogen Storage Disease Type III with Hypoketosis
- McCune-Albright Syndrome (MAS): Early and Extensive Bone Fibrous Dysplasia Involvement and “Mistaken Identity” Oophorectomy
- Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
