Novel <i>LRP5</i> Missense Mutation in a Patient With a High Bone Mass Phenotype Results in Decreased DKK1-Mediated Inhibition of Wnt Signaling*

Abstract

Like all high BMD-associated gain-of-function LRP5 mutations described thus far, the M282V variant affects an amino acid located in the first beta-propeller domain, underlining the functional importance of this region in the pathophysiology of these conditions. This mutation most likely alters a region important for LRP5 modulation by DKK.