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The Vitamin D Receptor and the Syndrome of Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets¹

Department of Medicine (P.J.M., D.F.), Stanford University School of Medicine, Stanford, California 94305-5103; and Department of Molecular and Cellular Physiology (J.W.P.), University of Cincinnati, Cincinnati, Ohio 45267

I. The Syndrome of Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR)

A. Historical

B. Clinical features of HVDRR

C. Pathophysiology

D. Alopecia

E. 1,25-Dihydroxyvitamin D [1,25-(OH)₂D] action and HVDRR

II. Vitamin D Physiology

A. Metabolism

B. 1-Hydroxylase deficiency

III. 1,25-Dihydroxyvitamin D Action Mediated by the Vitamin D receptor (VDR)

A. Historical aspects of VDR structure and function

B. The domain structure of the VDR

C. The regulation of gene expression by the VDR

IV. Cellular Basis of HVDRR

A. Studies in cultured skin fibroblasts

B. Studies in other cells

V. The VDR Gene and the Molecular Basis of HVDRR

A. The VDR chromosomal gene

B. The VDR gene promoter

C. Polymorphisms of the VDR gene

VI. HVDRR Mutations Causing the Ligand-Binding Positive Phenotype

A. Initial description of DNA-binding domain (DBD) mutations

B. Characterization of additional DBD mutations

C. Structural analysis of DBD mutations

VII. HVDRR Mutations Causing the Ligand-Binding Negative Phenotype

A. Initial description of ligand-binding domain (LBD) mutations

B. Characterization of additional LBD mutations

C. Structural analysis of LBD mutations

VIII. Additional Mutations In The VDR Gene

A. Hinge region mutations

B. Splice site mutations

C. Major structural mutations

D. Vitamin D resistance without a mutation in the VDR

IX. HVDRR Mouse Model

X. Treatment of HVDRR

A. Vitamin D

B. Calcium

C. Prenatal diagnosis

D. Spontaneous healing of rickets

XI. Analysis, Summary, and Conclusions