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Multiple hereditary exostosis
2%
2/82
Osteomalacia
6%
5/82
Osteopetrosis
26%
21/82
Osteoporosis
63%
52/82
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Loss of function of the OPG gene results in osteoporosis. Osteoprotegrin binds receptor activator of nuclear factor kappa beta (RANK) and inhibits its binding to RANK ligand (RANKL) on osteoclasts. An individual with this mutation would no longer have a way to block RANKL on osteoblasts from binding to RANK on osteoclasts. Osteoclasts would be constitutively activated, resulting in uncontrolled bone resorption. Several mouse models have confirmed the presence of this condition in knock-out mice. Multiple hereditary exostosis is an autosomal-dominant condition that results in osteochondroma formation. It has been linked to defects in the EXT1, EXT2, and EXT3 genes. Osteopetrosis would develop if a patient had overexpression of OPG or a carbonic anhydrase deficiency. Osteomalacia is the result of a deficiency in osteoid mineralization most commonly attributable to vitamin D deficiency.
3.5
(10)
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