Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

Gail C. Jackson, Dominique Marcus-Soekarman, Irene Stolte-Dijkstra, Aad Verrips, Jacqueline A. Taylor, Michael D. Briggs

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Multiple epiphyseal dysplasia (MED) is a clinically variable and genetically heterogeneous disease that is characterized by mild short stature and early onset osteoarthritis. Autosomal dominant forms are caused by mutations in the genes that encode type IX collagen, cartilage oligomeric matrix protein, and matrilin-3: COL9A1, COL9A2, COL9A3, COMP, and MATN3, respectively. Splicing mutations have been identified in all three genes encoding type IX collagen and are restricted to specific exons encoding an equivalent region of the COL3 domain in all three α(IX) chains. MED has been associated with mild myopathy in some families, in particular one family with a COL9A3 mutation and two families with C-terminal COMP mutations. In this study we have identified COL9A2 mutations in two families with MED that also have osteochondritis dissecans and mild myopathy. This study therefore extends the range of gene-mutations that can cause MED-related myopathy. © 2010 Wiley-Liss, Inc.
    Original languageEnglish
    Pages (from-to)863-869
    Number of pages6
    JournalAmerican Journal of Medical Genetics, Part A
    Volume152
    Issue number4
    DOIs
    Publication statusPublished - Apr 2010

    Keywords

    • Cartilage
    • Multiple epiphyseal dysplasia
    • Myopthathy
    • Osteochondritis dissecans
    • Type IX collagen

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