Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations

A case control study

Sang Gyo Seo, Hae Ryong Song, Hyun Woo Kim, Won Joon Yoo, Jong Sup Shim, Chin Youb Chung, Moon Seok Park, Chang Wug Oh, Changhoon Jeong, Kwang Soon Song, Ok Hwa Kim, Sung Sup Park, In Ho Choi, Tae Joon Cho

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.

Original languageEnglish
Article number84
JournalBMC Musculoskeletal Disorders
Volume15
Issue number1
DOIs
Publication statusPublished - 2014 Mar 15

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Osteochondrodysplasias
Orthopedics
Case-Control Studies
Mutation
Genes
Epiphyses
Hip Dislocation
Far East
Thigh
Gait
Medical Records
Hip
Genotype
Interviews
Phenotype
Bone and Bones
Pain
Surveys and Questionnaires

Keywords

  • Clinical manifestations
  • COMP
  • MATN3
  • Multiple epiphyseal dysplasia

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Rheumatology

Cite this

Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations : A case control study. / Seo, Sang Gyo; Song, Hae Ryong; Kim, Hyun Woo; Yoo, Won Joon; Shim, Jong Sup; Chung, Chin Youb; Park, Moon Seok; Oh, Chang Wug; Jeong, Changhoon; Song, Kwang Soon; Kim, Ok Hwa; Park, Sung Sup; Choi, In Ho; Cho, Tae Joon.

In: BMC Musculoskeletal Disorders, Vol. 15, No. 1, 84, 15.03.2014.

Research output: Contribution to journalArticle

Seo, SG, Song, HR, Kim, HW, Yoo, WJ, Shim, JS, Chung, CY, Park, MS, Oh, CW, Jeong, C, Song, KS, Kim, OH, Park, SS, Choi, IH & Cho, TJ 2014, 'Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: A case control study', BMC Musculoskeletal Disorders, vol. 15, no. 1, 84. https://doi.org/10.1186/1471-2474-15-84
Seo, Sang Gyo ; Song, Hae Ryong ; Kim, Hyun Woo ; Yoo, Won Joon ; Shim, Jong Sup ; Chung, Chin Youb ; Park, Moon Seok ; Oh, Chang Wug ; Jeong, Changhoon ; Song, Kwang Soon ; Kim, Ok Hwa ; Park, Sung Sup ; Choi, In Ho ; Cho, Tae Joon. / Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations : A case control study. In: BMC Musculoskeletal Disorders. 2014 ; Vol. 15, No. 1.
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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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T2 - A case control study

AU - Seo, Sang Gyo

AU - Song, Hae Ryong

AU - Kim, Hyun Woo

AU - Yoo, Won Joon

AU - Shim, Jong Sup

AU - Chung, Chin Youb

AU - Park, Moon Seok

AU - Oh, Chang Wug

AU - Jeong, Changhoon

AU - Song, Kwang Soon

AU - Kim, Ok Hwa

AU - Park, Sung Sup

AU - Choi, In Ho

AU - Cho, Tae Joon

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N2 - 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.

AB - 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.

KW - Clinical manifestations

KW - COMP

KW - MATN3

KW - Multiple epiphyseal dysplasia

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