title: Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
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.
authors.forename: Sang Gyo
authors.initials: SG
authors.lastname: Seo
authors.forename: Hae-Ryong
authors.initials: HR
authors.lastname: Song
authors.forename: Hyun Woo
authors.initials: HW
authors.lastname: Kim
authors.forename: Won Joon
authors.initials: WJ
authors.lastname: Yoo
authors.forename: Jong Sup
authors.initials: JS
authors.lastname: Shim
authors.forename: Chin Youb
authors.initials: CY
authors.lastname: Chung
authors.forename: Moon Seok
authors.initials: MS
authors.lastname: Park
authors.forename: Chang-Wug
authors.initials: CW
authors.lastname: Oh
authors.forename: Changhoon
authors.initials: C
authors.lastname: Jeong
authors.forename: Kwang Soon
authors.initials: KS
authors.lastname: Song
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: In Ho
authors.initials: IH
authors.lastname: Choi
authors.affiliation: Department of Orthopaedic Surgery, Seoul National University College of Medicine, 103 Daehak-ro Jongno-gu, Seoul 110-799, Korea. tjcho@snu.ac.kr.
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
mesh_terms: D001827:Body Height; D064236:Cartilage Oligomeric Matrix Protein / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005271:Femur Head Necrosis / Q000000981:diagnostic imaging / Q000209:etiology; D005684:Gait; D018740:Genetic Heterogeneity; D005838:Genotype; D006618:Hip Dislocation, Congenital / Q000000981:diagnostic imaging / Q000209:etiology; D006621:Hip Joint / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D064235:Matrilin Proteins / Q000235:genetics; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D010641:Phenotype; D011859:Radiography; D056910:Republic of Korea; D012189:Retrospective Studies; D063189:Symptom Assessment
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D064235:Matrilin Proteins; C577545:MATN3 protein, human; C577553:TSP5 protein, human