Bibliographic Details
| Title: |
Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets |
| Authors: |
Macedo, Luciana Cosentino de, Soardi, Fernanda Caroline, Ananias, Nayla, Belangero, Vera Maria Santoro, Rigatto, Sumara Zuazani Pinto, De-Mello, Maricilda Palandi, D'Souza-Li, Lília |
| Source: |
Arquivos Brasileiros de Endocrinologia & Metabologia. November 2008 52(8) |
| Publisher Information: |
Sociedade Brasileira de Endocrinologia e Metabologia, 2008. |
| Publication Year: |
2008 |
| Subject Terms: |
Rickets, Bone deformities, Hypocalcemia, Vitamin D |
| More Details: |
Mutations in the vitamin D receptor (VDR) are associated to the hereditary 1,25-dihydroxivitamin D-resistant rickets. The objectives of this work are: search for mutations in the VDR and analyze their functional consequences in four Brazilian children presented with rickets and alopecia. The coding region of the VDR was amplified by PCR e direct sequenced. We identified three mutations: two patients had the same mutation in exon 7 at aminoacid position 259 (p.Q259E); one patient had a mutation in exon 8 at codon 319 (p.G319V) and another one had a mutation in exon 3 leading to a truncated protein at position 73 (p.R73X). Functional studies of the mutant receptors of fibroblast primary culture, from patients' skin biopsy treated with increasing doses of 1,25(OH)2 vitamin D showed that VDR mutants were unable to be properly activated and presented a reduction in 24-hydroxylase expression level. |
| Document Type: |
article |
| File Description: |
text/html |
| Language: |
English |
| ISSN: |
0004-2730 |
| DOI: |
10.1590/S0004-27302008000800007 |
| Access URL: |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800007 |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edssci.S0004.27302008000800007 |
| Database: |
SciELO |
