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

March 2011 in “ Endocrine ”

Vichit Supornsilchai, Yodporn Hiranras, Suttipong Wacharasindhu, Atchara Mahayosnond, Kanya Suphapeetiporn, Vorasuk Shotelersuk

vitamin D receptor VDR gene hereditary vitamin D-resistant rickets HVDRR total alopecia hypocalcemia normophosphatemia total hair loss low calcium levels normal phosphate levels

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

Researchers identified a novel nonsense mutation, p.R50X, in the vitamin D receptor (VDR) gene in two siblings with hereditary vitamin D-resistant rickets (HVDRR). The mutation caused a stop codon at amino acid position 50, leading to total alopecia and hypocalcemia in the children, with one showing normophosphatemia. The asymptomatic parents were heterozygous for the mutation. This study underscored the importance of genetic testing for early diagnosis and genetic counseling in HVDRR.

View this study on link.springer.com →

Discuss this study in the Community →

Research cited in this study

9 / 9 results

research Genetic Disorders and Defects in Vitamin D Action

151 citations , June 2010 in “Endocrinology and metabolism clinics of North America”

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets With Alopecia Resulting From a Novel Missense Mutation in the DNA-Binding Domain of the Vitamin D Receptor

50 citations , September 2009 in “Molecular Genetics and Metabolism”

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling

21 citations , January 2006 in “Hormone Research in Paediatrics”

A mutation in the VDR gene affects hair cycling without needing ligand binding.

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”

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

research Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling

215 citations , September 2003 in “Journal of Biological Chemistry”

Vitamin D receptor and hairless protein are essential for hair growth.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.

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

47 citations , February 1998 in “Journal of bone and mineral research”

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

research Analysis of the Relation Between Alopecia and Resistance to 1,25-Dihydroxyvitamin D

100 citations , October 1986 in “Clinical Endocrinology”

Alopecia indicates more severe resistance to 1,25-dihydroxyvitamin D.

research Vitamin D Resistant Rickets With Alopecia: A Form of End Organ Resistance to 1,25 Dihydroxy Vitamin D

82 citations , April 1981 in “Clinical endocrinology”

A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.

Related Community Posts Join

6 / 1000+ results

community Is Vitamin D the cause of my baldness or slow regrowth?

in Is this regrowth? 1 upvotes 2 weeks ago

The conversation discusses hair loss treatments, including oral finasteride, topical minoxidil, and microneedling, and the potential impact of Vitamin D and folic acid deficiencies on hair regrowth. It suggests that while male pattern baldness is the primary cause, addressing vitamin deficiencies may aid in improving regrowth.

Compressed part of research of theory of androgenic/anabolitic balance. AGA h-responders analytic. Theory of physio-metabolitic method of anti AGA treatment

community Compressed part of research of theory of androgenic/anabolitic balance. AGA h-responders analytic. Theory of physio-metabolitic method of anti AGA treatment

in Research 865 upvotes 1 year ago

The treatment for androgenetic alopecia involves using finasteride and minoxidil with intense exercise and cold exposure to boost metabolism and reduce androgenic effects, potentially leading to hair regrowth. This approach may activate biological pathways for improved hair and overall health.

community My Theory Regarding a Cause and Cure for Androgenetic Alopecia

in Treatment 98 upvotes 5 years ago

Hair loss theory suggests imbalance between Vitamin D Receptor (VDR) and Androgen Receptor (AR) activation. Proposed treatment includes upregulating VDR, downregulating AR, and improving mitochondrial health.

community Why are there no studies on Topical Vitamin D3 for AGA?

in Research/Science 10 upvotes 1 year ago

Topical Vitamin D3 may stimulate hair growth and has been used for Alopecia Areata. There is a question about the lack of research on its use for Androgenetic Alopecia (AGA).

community How a follicle next to it is so genetically different that it never miniaturized??

in Chat 219 upvotes 2 months ago

Genetic differences in hair follicles affect hair loss patterns. Treatments discussed include finasteride, dutasteride, minoxidil, and RU58841.

community Sunlight: Does it Stimulate Hair Growth or Hair Loss?

in Research/Science 64 upvotes 1 year ago

The conversation discusses whether sunlight exposure affects hair growth or loss, with mixed anecdotes and theories but no clear consensus. Some suggest moderate sunlight can benefit hair by providing vitamin D, while others doubt its effectiveness compared to treatments like Minoxidil or finasteride.

Similar Research

5 / 1000+ results

research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets

107 citations , March 2014 in “BoneKEy Reports”

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

research Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets

12 citations , September 2017 in “JDR Clinical & Translational Research”

Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.

Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

6 citations , June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

research Genetic Disorders and Defects in Vitamin D Action

151 citations , June 2010 in “Endocrinology and metabolism clinics of North America”

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia

6 citations , November 2017 in “Scientific reports”

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.