How to cite this article: Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA, Briggs MD. 2010. Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. Am J Med Genet Part A 152A:863–869.
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy†
Article first published online: 26 MAR 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 4, pages 863–869, April 2010
How to Cite
Jackson, G. C., Marcus-Soekarman, D., Stolte-Dijkstra, I., Verrips, A., Taylor, J. A. and Briggs, M. D. (2010), Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. Am. J. Med. Genet., 152A: 863–869. doi: 10.1002/ajmg.a.33240
- Issue published online: 26 MAR 2010
- Article first published online: 26 MAR 2010
- Manuscript Accepted: 16 NOV 2009
- Manuscript Received: 23 MAR 2009
- Wellcome Trust. Grant Numbers: 071161/Z/03/Z, 084353/Z/07/Z
- European Commission FP6. Grant Number: 037471
- multiple epiphyseal dysplasia;
- type IX collagen;
- osteochondritis dissecans
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.