Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/81920
Type: Artigo de periódico
Title: Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Author: de Macedo, LC
Soardi, FC
Ananias, N
Belangero, VMS
Rigatto, SZP
De-Mello, MP
D'Souza-Li, L
Abstract: 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. (Arq Bras Endocrinol Metab 2008; 52/8:1244-1251)
Subject: Rickets
Bone deformities
Hypocalcemia
Vitamin D
Country: Brasil
Editor: Sbem-soc Brasil Endocrinologia & Metabologia
Rights: aberto
Date Issue: 2008
Appears in Collections:Unicamp - Artigos e Outros Documentos

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