We describe a novel insertion/substitution mutation in helix Hl of the VDR ligand-binding domain (LBD) that abolishes ligand binding and result in the syndrome of HVDRR.
In conclusion, a novel mutation was identified in the VDR LBD that reduces VDR abundance and its affinity for 1,25(OH)(2)D(3) and interferes with RXRalpha heterodimerization resulting in the syndrome of HVDRR.