Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

November 2008 in “ Arquivos Brasileiros de Endocrinologia & Metabologia ”

Luciana Cosentino de Macedo, Fernanda Caroline Soardi, Nayla Ananias, Vera Maria Santoro Belangero, Sumara Zuazani Pinto Rigatto, Maricilda Palandi de Mello, Lília D’Souza-Li

vitamin D receptor VDR gene 1,25-dihydroxyvitamin D alopecia 24-hydroxylase fibroblast primary cultures skin biopsies vitamin D hair loss skin cells

Studysummary In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression. Our plain-language summary of this paper — not a Tressless recommendation.

In a study from 2008, researchers investigated mutations in the vitamin D receptor (VDR) gene in four Brazilian children who presented with hereditary 1,25-dihydroxyvitamin D-resistant rickets and alopecia. They amplified and sequenced the coding region of the VDR gene, identifying three distinct mutations: two patients shared a mutation at amino acid position 259 in exon 7 (p.Q259E), one patient had a mutation at codon 319 in exon 8 (p.G319V), and another had a mutation in exon 3 that resulted in a truncated protein at position 73 (p.R73X). Functional studies using fibroblast primary cultures from the patients' skin biopsies, treated with increasing doses of 1,25(OH)2 vitamin D, revealed that the mutant VDRs were unable to be properly activated, leading to a reduction in 24-hydroxylase expression level.

View this study on scielo.br →

Discuss this study in the Community →

Research cited in this study

4 / 4 results

research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets Due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function

67 citations , August 2004 in “Endocrinology”

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

research Two Siblings With Vitamin-D-Dependent Rickets Type II: No Recurrence Of Rickets For 14 Years After Cessation Of Therapy

47 citations , October 1989 in “European Journal of Pediatrics”

Two siblings stayed rickets-free for 14 years after stopping treatment.

research Calcitriol-Resistant Rickets With Alopecia

55 citations , May 1985 in “Archives of Dermatology”

This study found that alopecia in four children was linked to severe calcitriol-resistant rickets, suggesting this condition should be considered among inherited hair growth disorders.

research Rickets With Alopecia: An Inborn Error of Vitamin D Metabolism

170 citations , May 1979 in “The journal of pediatrics/The Journal of pediatrics”

This report describes two sisters with rickets and alopecia unresponsive to high doses of vitamin D2, where oral phosphorus supplements led to significant clinical improvement.