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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

32 Citations (Web of Science)

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 alpha(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.
Original languageEnglish
Pages (from-to)863-869
JournalAmerican Journal of Medical Genetics Part A
Volume152A
Issue number4
DOIs
Publication statusPublished - Apr 2010

Keywords

  • multiple epiphyseal dysplasia
  • myopthathy
  • type IX collagen
  • cartilage
  • osteochondritis dissecans

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