CLINICAL CORRELATIONS OF OSTEOARTHRITIS ASSOCIATED WITH SINGLE-BASE MUTATIONS IN THE TYPE-II PROCOLLAGEN GENE

There are increasing numbers of mutations described in the gene for ty pe II collagen (COL2A1), Recently, COL2A1 mutations were shown to be a ssociated with milder forms of chondrodysplasia, which may present wit h precocious generalized osteoarthritis (OA), The arginine(519)-cystei ne and the arginine(75)-cysteine mutations are 2 such sites on COL2A1 where multiple unrelated families have been reported presenting with e arly onset, generalized OA and chondrodysplasia, The observation of mu ltiple sites where recurrent mutations occur suggests that certain are as of COL2A1 are more prone to mutational events.