Mutations in the COL2A1 gene cause type II collagenopathies characterized by skeletal dysplasia with a wide spectrum of phenotypic severity. Most COL2A1 mutations located in the triple-helical region, and the glycine to bulky amino acid substitutions (., glycine to serine) in the Gly-X-Y repeat were identified frequently. | Recurrent () mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: A case report