title: Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects.
abstract: We report on a Japanese family of four generations with an autosomal dominant precocious osteoarthropathy. The cardinal clinical manifestations of affected individuals were painful weight-bearing large joints, which started in late childhood or adolescence. The radiological hallmarks included coxa plana, mild epiphyseal dysplasia of the knee, and round talar domes with tibiotalar slant in childhood, which evolved into degenerative joint diseases in adulthood. The disease phenotype was cosegregated with a mutation of the cartilage oligomeric matrix protein (COMP) gene in the family members, who underwent molecular evaluation. COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have short stature or brachydactyly. This report expands further the phenotypic variations of COMP defects.
authors.affiliation: Department of Orthopaedic Surgery, Sanyudo Hospital, 6-1-219 Chuou, Yonezawa, Yamagata 992-0045, Japan. kawaji@sanyudo.or.jp
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kawaji
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Sobei
authors.initials: S
authors.lastname: Watanabe
authors.forename: Akihiko
authors.initials: A
authors.lastname: Mabuchi
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Ikeda
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Akira
authors.initials: A
authors.lastname: Sasaki
authors.forename: Tokuhisa
authors.initials: T
authors.lastname: Sano
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005799:Genes, Dominant; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007564:Japan; D064235:Matrilin Proteins; D008875:Middle Aged; D009154:Mutation; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human