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The purpose of this study was to investigate the frequency of mutations in individuals with a clinical and radiographic diagnosis of MED and to test the hypothesis that characteristic radiological findings may be helpful in predicting the gene responsible. The radiographs of 74 Korean patients were evaluated by a panel of skeletal dysplasia experts. Six genes known to be associated with MED (<jats:italic>COMP<\/jats:italic>,<jats:italic>MATN3<\/jats:italic>,<jats:italic>COL9A1<\/jats:italic>,<jats:italic>COL9A2<\/jats:italic>,<jats:italic>COL9A3<\/jats:italic>, and<jats:italic>DTDST<\/jats:italic>) were screened by sequencing. Mutations were found in 55 of the 63 patients (87%).<jats:italic>MATN3<\/jats:italic>mutations were found in 30 patients (55%), followed by<jats:italic>COMP<\/jats:italic>mutations in 23 (41%), and<jats:italic>COL9A2<\/jats:italic>and<jats:italic>DTDST<\/jats:italic>mutations in one patient (2%) each. Comparisons of radiographic findings in patients with<jats:italic>COMP<\/jats:italic>and<jats:italic>MATN3<\/jats:italic>mutations showed that albeit marked abnormalities in hip and knee joints were observed in both groups, the degree of involvement and the morphology of dysplastic epiphyses differed markedly. The contour of the pelvic acetabulum, the presence of metaphyseal vertical striations, and\/or the brachydactyly of the hand were also found to be highly correlated with the genotypes. The study confirms that<jats:italic>MATN3<\/jats:italic>and<jats:italic>COMP<\/jats:italic>are the genes most frequently responsible for MED and that subtle radiographic signs may give precious indications on which gene(s) should be prioritized for mutational screening in a given individual. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34246","type":"journal-article","created":{"date-parts":[[2011,9,30]],"date-time":"2011-09-30T20:53:41Z","timestamp":1317416021000},"page":"2669-2680","source":"Crossref","is-referenced-by-count":26,"title":["Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 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