title: Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement.
abstract: OBJECTIVE
  To define the clinical, radiologic and molecular characteristics of a patient with early progressive osteoarthritis and mild spondyloepiphyseal dysplasia.
  
  
  METHODS
  We describe an 18-year-old girl with early progressive osteoarthritis and mild spondyloepiphyseal dysplasia. The index case underwent a physical examination, anthropometric measurements and radiologic and laboratory studies. DNA of the patient and her only living parent (mother) was sequenced for the type II collagen gene (COL2A1).
  
  
  RESULTS
  Mild scoliosis was noticed in the proband at the age of 13 years. At the same age, she began to have arthralgia in almost all the joints and osteoarthritis progressed fast, necessitating a hip, knee and ankle prosthesis at the age of 18 years. She was eumorphic with no ocular or hearing abnormalities. Molecular testing of the COL2A1 gene revealed a p.Gly204Val mutation. The mutation was absent in the healthy mother.
  
  
  CONCLUSIONS
  This patient provides further proof that an early osteoarthritic phenotype can be caused by a mutation in the COL2A1 gene.
authors.affiliation: Division of Paediatric Immunology and Rheumatology, Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia. Electronic address: iva_rukavina@hotmail.com.
authors.forename: Iva
authors.initials: I
authors.lastname: Rukavina
authors.affiliation: Department of Medical Genetics, Antwerp University Hospital, Edegem, Belgium.
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
authors.affiliation: Department of Medical Genetics, Antwerp University Hospital, Edegem, Belgium.
authors.forename: Lut
authors.initials: L
authors.lastname: Van Laer
authors.affiliation: Division of Paediatric Immunology and Rheumatology, Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.
authors.forename: Marijan
authors.initials: M
authors.lastname: Frković
authors.affiliation: Department of Orthopedics, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.
authors.forename: Tomislav
authors.initials: T
authors.lastname: Đapić
authors.affiliation: Division of Paediatric Immunology and Rheumatology, Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.
authors.forename: Marija
authors.initials: M
authors.lastname: Jelušić
mesh_terms: D000293:Adolescent; D024043:Collagen Type II / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D009154:Mutation; D010003:Osteoarthritis / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II
keywords: COL2A1; Early osteoarthritis; Spondyloepiphyseal dysplasia; p.Gly204Val mutation