TY - JOUR
T1 - Type IX Collagen Gene Mutations Can Result in Multiple Epiphyseal Dysplasia That Is Associated With Osteochondritis Dissecans and a Mild Myopathy
AU - Jackson, Gail C.
AU - Marcus-Soekarman, Dominique
AU - Stolte-Dijkstra, Irene
AU - Verrips, Aad
AU - Taylor, Jacqueline A.
AU - Briggs, Michael D.
PY - 2010/4
Y1 - 2010/4
N2 - 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.
AB - 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.
KW - multiple epiphyseal dysplasia
KW - myopthathy
KW - type IX collagen
KW - cartilage
KW - osteochondritis dissecans
U2 - 10.1002/ajmg.a.33240
DO - 10.1002/ajmg.a.33240
M3 - Article
C2 - 20358595
SN - 1552-4825
VL - 152A
SP - 863
EP - 869
JO - American Journal of Medical Genetics Part A
JF - American Journal of Medical Genetics Part A
IS - 4
ER -