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Open Access Research article

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

Sang Gyo Seo1, Hae-Ryong Song2, Hyun Woo Kim3, Won Joon Yoo1, Jong Sup Shim4, Chin Youb Chung1, Moon Seok Park1, Chang-Wug Oh5, Changhoon Jeong6, Kwang Soon Song7, Ok-Hwa Kim8, Sung Sup Park9, In Ho Choi1 and Tae-Joon Cho1*

Author Affiliations

1 Department of Orthopaedic Surgery, Seoul National University College of Medicine, 103 Daehak-ro Jongno-gu, Seoul 110-799, Korea

2 Department of Orthopedic Surgery, Korea University Guro Hospital, Seoul, Korea

3 Department of Orthopaedic Surgery, Yonsei University Severance Children’s Hospital, Seoul, Korea

4 Department of Orthopaedic Surgery, Sungkyunkwan University Samsung Medical Center, Seoul, Korea

5 Department of Orthopedic Surgery, Kyungpook National University Hospital, Daegu, Korea

6 Department of Orthopaedic Surgery, The Catholic University of Korea, Bucheon St. Mary’s Hospital, Bucheon, Korea

7 Department of Orthopedic Surgery, Keimyung University Dongsan Medical Center, Daegu, Korea

8 Department of Radiology, Ajou University Hospital, Suwon, Korea

9 Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea

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BMC Musculoskeletal Disorders 2014, 15:84  doi:10.1186/1471-2474-15-84

Published: 15 March 2014

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.

Keywords:
Multiple epiphyseal dysplasia; COMP; MATN3; Clinical manifestations