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

January 2010 in “ Journal of Pediatric Endocrinology and Metabolism ”

Nikta Forghani, Catherine K. Lum, Sowmya Krishnan, Jining Wang, Darrell M. Wilson, Piers R. Blackett, Peter J. Malloy, David Feldman

hereditary vitamin D resistant rickets alopecia vitamin D receptor VDR gene 1,25-dihydroxyvitamin D3 CYP24A1 gene hypocalcemia hypophosphatemia skin fibroblasts VDR 1,25(OH)2D3

Studysummary This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3. Our plain-language summary of this paper — not a Tressless recommendation.

The study investigated two unrelated young female patients with hereditary vitamin D resistant rickets (HVDRR) and partial alopecia, both exhibiting severe early onset rickets, hypocalcemia, and hypophosphatemia. Genetic analysis revealed a novel nonsense mutation (R50X) in the vitamin D receptor (VDR) gene, leading to a premature stop codon. This mutation resulted in the absence of VDR protein in skin fibroblasts from one patient, and treatment with 1,25-dihydroxyvitamin D3 failed to induce CYP24A1 gene expression, indicating resistance to 1,25(OH)2D3. The study concluded that this mutation truncates the VDR protein, causing the observed resistance and associated symptoms.

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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”

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

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”

In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.

research Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis

144 citations , December 2004 in “Molecular Endocrinology”

This study found that the effects of the vitamin D receptor on hair follicle cycling in mice are independent of its ability to bind a hormone, with specific domain mutations influencing hair regrowth outcomes.

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”

This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.