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

2010 ◽  
Vol 23 (8) ◽  
Author(s):  
Nikta Forghani ◽  
Catherine Lum ◽  
Sowmya Krishnan ◽  
Jining Wang ◽  
Darrel M. Wilson ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Nonsense Mutation ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Dihydroxyvitamin D ◽  
1,25 Dihydroxyvitamin D ◽  
Resistant Rickets

Tissue resistance to 1,25-dihydroxyvitamin D without a mutation of the vitamin D receptor gene

1993 ◽  
Vol 39 (6) ◽  
pp. 663-670 ◽  
Author(s):  
M. Hewison ◽  
A. R. Rut ◽  
K. Kristjansson ◽  
R. E. Walker ◽  
M. J. Dillon ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Dihydroxyvitamin D ◽  
1,25 Dihydroxyvitamin D ◽  
Tissue Resistance

scholarly journals Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

2008 ◽  
Vol 52 (8) ◽  
pp. 1244-1251 ◽  
Author(s):  
Luciana Cosentino de Macedo ◽  
Fernanda Caroline Soardi ◽  
Nayla Ananias ◽  
Vera Maria Santoro Belangero ◽  
Sumara Zuazani Pinto Rigatto ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Coding Region ◽  
Dihydroxyvitamin D ◽  
Functional Studies ◽  
1,25 Dihydroxyvitamin D ◽  
Functional Consequences ◽  
Mutant Receptors ◽  
Resistant Rickets

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.

scholarly journals Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

2014 ◽  
Vol 111 (1) ◽  
pp. 33-40 ◽  
Author(s):  
Peter J. Malloy ◽  
Velibor Tasic ◽  
Doris Taha ◽  
Filiz Tütüncüler ◽  
Goh Siok Ying ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Dihydroxyvitamin D ◽  
1,25 Dihydroxyvitamin D ◽  
Resistant Rickets
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