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Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control studyopen access

Authors
Seo, Sang GyoSong, Hae-RyongKim, Hyun WooYoo, Won JoonShim, Jong SupChung, Chin YoubPark, Moon SeokOh, Chang-WugJeong, ChanghoonSong, Kwang SoonKim, Ok-HwaPark, Sung SupChoi, In HoCho, Tae-Joon
Issue Date
15-Mar-2014
Publisher
BIOMED CENTRAL LTD
Keywords
Multiple epiphyseal dysplasia; COMP; MATN3; Clinical manifestations
Citation
BMC MUSCULOSKELETAL DISORDERS, v.15
Indexed
SCIE
SCOPUS
Journal Title
BMC MUSCULOSKELETAL DISORDERS
Volume
15
URI
https://scholarworks.korea.ac.kr/kumedicine/handle/2020.sw.kumedicine/9490
DOI
10.1186/1471-2474-15-84
ISSN
1471-2474
Abstract
Background: Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia mainly involving the epiphyses of the long bones. However, it is a genetically heterogeneous group of diseases sharing certain aspects of the radiologic phenotype. In surveys conducted in East Asia, MATN3 was the most common causative gene, followed by COMP. In this study, the authors compared clinical manifestation of MED patients caused by MATN3 and COMP gene mutations, as well as subsequent orthopaedic interventions. Methods: Fifty nine molecularly-confirmed MED patients were subjects of this study. The MATN3 gene mutation group comprised of 37 patients (9 female, 28 male). The COMP gene mutation consisted of 22 cases (15 females, 7 males). Medical records and radiographs were reviewed, and questionnaire surveys or telephone interviews were conducted. Results: At the first presentation, the mean age was 8.8 +/- 2.8 years (mean +/- standard deviation) in the MATN3 group, and 8.5 +/- 3.5 years in the COMP group (p = 0.670). The height in the COMP group was significantly shorter than those in the MATN3 group (p < 0.001). Gait abnormality at the first visit (p = 0.041) and the lastest follow-up (p = 0.037) were statistically significant difference. Hip pain (p = 0.084), limitation of daily activity (p = 0.075) at the latest follow-up tended to be more frequent in the COMP group. Hip dysplasia was more common in the COMP group, having significantly larger acetabular angle (p = 0.037), smaller center-edge angle (p = 0.002), severe Stulberg classification (p < 0.001), and smaller femoral head coverage (p < 0.001). Conclusions: Clinical manifestations of MED caused by MATN3 were milder than manifestations of the COMP mutation group. These differences in clinical manifestation and prognosis justify molecular differentiation between the two genotypes.
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Song, Hae Ryong
Guro Hospital (Department of Orthopedic Surgery, Guro Hospital)
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