Revisit of Multiple Epiphyseal Dysplasia: Ethnic Difference in Genotypes and Comparison of Radiographic Features Linked to the COMP and MATN3 Genes

Ok-Hwa KimHyunwoong ParkMoon-Woo SeongTae-Joon ChoGen NishimuraAndrea Superti-FurgaSheila UngerShiro IkegawaIn Ho ChoiHae-Ryong SongHyun Woo KimWon Joon YooJong Sup ShimChin Youb ChungChang-Wug OhChanghoon JeongKwang Soon SongSang Gyo SeoSung Im ChoIm Kyung YeoSo Yeon KimSeungman ParkSung Sup Park
Dept. of Orthopedic Surgery (정형외과학)
Issue Date
American Journal of Medical Genetics Part A, Vol.155(11) : 2669-2680, 2011
Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous group of diseases characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. 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 (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) were screened by sequencing. Mutations were found in 55 of the 63 patients (87%). MATN3 mutations were found in 30 patients (55%), followed by COMP mutations in 23 (41%), and COL9A2 and DTDST mutations in one patient (2%) each. Comparisons of radiographic findings in patients with COMP and MATN3 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 MATN3 and COMP 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. © 2011 Wiley Periodicals, Inc.
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1. Journal Papers (연구논문) > 1. School of Medicine (의과대학) > Dept. of Orthopedic Surgery (정형외과학)
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