title: Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1).
abstract: A single-base mutation resulting in an arginine-519-cysteine (R519C) mutation of type II procollagen (COL2A1) has been shown to result in precocious osteoarthritis with mild spinal chondrodysplasia without severe foreshortening (OMIM 604864). The nature of childhood disease among affected individuals has not been described. The recent presentation of four children with this mutation allows us to provide clinical correlation. This form of premature osteoarthritis may present in childhood and should be considered in the differential diagnosis of childhood arthropathy presenting in the context of a positive family history.
authors.affiliation: Shriners Hospital for Children, 1900 Richmond Road, Lexington, KY 40502, USA. rjmier@aol.com
authors.forename: R J
authors.initials: RJ
authors.lastname: Mier
authors.forename: D
authors.initials: D
authors.lastname: Holderbaum
authors.forename: R
authors.initials: R
authors.lastname: Ferguson
authors.forename: R
authors.initials: R
authors.lastname: Moskowitz
mesh_terms: D000293:Adolescent; D002648:Child; D024043:Collagen Type II / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010003:Osteoarthritis / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography
chemical_list: D024043:Collagen Type II; D004247:DNA