Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor

February 1998 in “ Journal of bone and mineral research ”

Wenjing Zhu, Peter J. Malloy, Edgard Delvin, Gilles Chabot, David Feldman

hereditary vitamin D-resistant rickets total alopecia vitamin D receptor VDR gene 1,25-dihydroxyvitamin D3 fibroblasts gene transcription 1,25(OH)2D3 Arg30stop mutation HVDRR VDR vitamin D3

TLDR A specific gene mutation causes vitamin D-resistant rickets and hair loss.

The study investigated a young French-Canadian boy with hereditary vitamin D-resistant rickets (HVDRR) and total alopecia, identifying a unique C to T mutation in the vitamin D receptor (VDR) gene. This mutation resulted in a premature stop codon at amino acid 30, truncating the VDR and causing resistance to 1,25-dihydroxyvitamin D3. The patient's fibroblasts showed very low VDR protein levels and failed to induce gene transcription in response to 1,25(OH)2D3. The parents were found to be heterozygous for the mutation. The Arg30stop mutation was concluded to be the molecular basis of HVDRR in this patient.

View this study on onlinelibrary.wiley.com →

Discuss this study in the Community →

Similar Research

5 / 1000+ results

Experience of Intravenous Calcium Treatment and Long-Term Responses to Treatment in a Patient with Hereditary Vitamin D-Resistant Rickets Resulting from a Novel Mutation

research Experience of Intravenous Calcium Treatment and Long-Term Responses to Treatment in a Patient with Hereditary Vitamin D-Resistant Rickets Resulting from a Novel Mutation

1 citations , May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.

research A Unique Insertion/Duplication in the VDR Gene That Truncates the VDR Causing Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Without Alopecia

37 citations , October 2006 in “Archives of Biochemistry and Biophysics”

A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.

research Deletion of DNA Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D

277 citations , July 2002 in “Molecular Endocrinology”

Removing part of the vitamin D receptor stops vitamin D from working properly.

research The 1,25-Dihydroxyvitamin D3-Independent Actions of the Vitamin D Receptor in Skin

18 citations , July 2010 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology”

The vitamin D receptor helps regulate skin and hair health independently of its usual vitamin D ligand.

research Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene

8 citations , March 2011 in “Endocrine”

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor

Related Community Posts Join

community My Theory Regarding a Cause and Cure for Androgenetic Alopecia

community Vitamin D - I was taking vitamin D last 6 month, my hair is back(4000UI daily)

community Went home for the holidays and my Dad asked ‘what have you done to your hair?’ he was genuinely happy for me and supportive when I told him I was growing it back with finasteride. AMA – 7 months in.

community Don't discount diet for the sake of scalp health. Meds had no effect for 2+ years. 3.5 months since new diet / Shampoo routine.

community Study: There is 70x Higher Unconjugated DHT in Feces Compared To Blood Levels in Young Adults - Gut Microbiota Manages DHT Recycling and Metabolism