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Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

 Ok-Hwa Kim  ;  Hyunwoong Park  ;  Sung Sup Park  ;  Seungman Park  ;  So Yeon Kim  ;  Im Kyung Yeo  ;  Sung Im Cho  ;  Sang Gyo Seo  ;  Kwang Soon Song  ;  Changhoon Jeong  ;  Chang-Wug Oh  ;  Chin Youb Chung  ;  Jong Sup Shim  ;  Won Joon Yoo  ;  Hyun Woo Kim  ;  Hae-Ryong Song  ;  In Ho Choi  ;  Shiro Ikegawa  ;  Sheila Unger  ;  Andrea Superti-Furga  ;  Gen Nishimura  ;  Tae-Joon Cho  ;  Moon-Woo Seong 
 American Journal of Medicine, Vol.155A(11) : 2669-2680, 2011 
Journal Title
 American Journal of Medicine 
Issue Date
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.
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1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Orthopedic Surgery (정형외과학교실)
Yonsei Authors
김현우(Kim, Hyun Woo)
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