계명대학교 의학도서관 Repository

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

Metadata Downloads
Affiliated Author(s)
송광순
Alternative Author(s)
Song, Kwang Soon
Journal Title
American Journal of Medical Genetics Part A
ISSN
1552-4841
Issued Date
2011
Abstract
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.
Department
Dept. of Orthopedic Surgery (정형외과학)
Publisher
School of Medicine
Citation
Ok-Hwa Kim et al. (2011). Revisit of Multiple Epiphyseal Dysplasia: Ethnic Difference in Genotypes and Comparison of Radiographic Features Linked to the COMP and MATN3 Genes. American Journal of Medical Genetics Part A, 155(11), 2669–2680. doi: 10.1002/ajmg.a.34246
Type
Article
ISSN
1552-4841
DOI
10.1002/ajmg.a.34246
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/34930
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Orthopedic Surgery (정형외과학)
공개 및 라이선스
  • 공개 구분공개
  • 엠바고Forever
파일 목록

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.