A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets
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Date
2004
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Abstract
A young Chilean boy with severe rickets was found to have hereditary vitamin D-resistant rickets without alopecia. He had a unique insertion/substitution mutation in the ligand-binding domain of the vitamin D receptor. The in-frame mutation disrupted ligand binding and co-activator binding and resulted in 1,25(OH)(2)D-3 resistance.
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Keywords
insertion/substitution, ligand binding, vitamin D receptor, resistance, mutation