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 … David Feldman
    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.
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    Research cited in this study 4

    1. A Unique Insertion/Duplication in the VDR Gene That Truncates the VDR Causing Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Without Alopecia Archives of Biochemistry and Biophysics · 2006
    2. A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling Hormone Research in Paediatrics · 2006
    3. Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis Molecular Endocrinology · 2004
    4. Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2001