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- Title
Identification of a Novel Nonsense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Gene and Clinical Description of Two Greek Patients with Hereditary Vitamin D-Resistant Rickets and Alopecia.
- Authors
Papadopoulou, anna; Bountouvi, Evangelia; Gole, Evangelia; Doulgeraki, artemis; Tournis, Symeon; Papadimitriou, anastasios; Nicolaidou, Polyxeni
- Abstract
Background/Aims: We analyzed the vitamin D receptor (VDR) gene in 2 Greek patients who exhibited the classical features of hereditary vitamin D-resistant rickets (HVDRR) type II, including severe bone deformities and alopecia. We also describe the clinical phenotypes and the response to treatment of our patients. Methods: Genomic DNA was extracted from peripheral blood samples of both patients. Coding region and flanking introns of VDR gDNA was amplified and direct sequenced. Results: A unique cytosine to thymine (C>T) transition was identified at nucleotide position 1066 (c.1066C>T) in the ligand-binding domain of the VDR gene of both patients, predicting the substitution of a glutamine to a terminal codon at position 356 (Gln356stop). Conclusions: The novel nonsense mutation c.1066C>T (Gln356stop) is expected to result in a VDR protein 71 amino acids shorter and thus to affect the normal VDR function. In particular, the missing protein part alters the VDR heterodimerization with the retinoid X receptor which has been correlated with the presence of alopecia. Both patients were introduced to treatment with supraphysiological doses of 1α-calcidiol which improved their clinical phenotypes except for alopecia. © 2014 S. Karger AG, Basel
- Subjects
NONSENSE mutation; LIGAND binding (Biochemistry); VITAMIN D receptors; RICKETS treatment; BALDNESS treatment
- Publication
Hormone Research in Paediatrics, 2014, Vol 82, Issue 3, p206
- ISSN
1663-2818
- Publication type
Article
- DOI
10.1159/000362618