title: Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
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. (c) 2010 Wiley-Liss, Inc.
authors.affiliation: Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK.
authors.forename: Gail C
authors.initials: GC
authors.lastname: Jackson
authors.forename: Dominique
authors.initials: D
authors.lastname: Marcus-Soekarman
authors.forename: Irene
authors.initials: I
authors.lastname: Stolte-Dijkstra
authors.forename: Aad
authors.initials: A
authors.lastname: Verrips
authors.forename: Jacqueline A
authors.initials: JA
authors.lastname: Taylor
authors.forename: Michael D
authors.initials: MD
authors.lastname: Briggs
mesh_terms: D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D024081:Collagen Type IX / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010008:Osteochondritis Dissecans / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011859:Radiography
chemical_list: C439970:COL9A1 protein, human; C120282:COL9A2 protein, human; C120768:COL9A3 protein, human; D024081:Collagen Type IX