Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II

    November 2009 in “ Calcified tissue international ”
    Kanakamani Jeyaraman, Neeraj Tomar, Esha Kaushal … Ravinder Goswami
    Studysummary A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
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    Research cited in this study 6

    1. Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Arquivos Brasileiros de Endocrinologia & Metabologia · 2008
    2. 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
    3. Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets Due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function Endocrinology · 2004
    4. Tryptophan Missense Mutation in the Ligand-Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25-Dihydroxyvitamin D Journal of Bone and Mineral Research · 2002
    5. 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
    6. Analysis of the Relation Between Alopecia and Resistance to 1,25-Dihydroxyvitamin D Clinical Endocrinology · 1986