Identification of col2a1 gene mutations in patients with chondrodysplasias and familial osteoarthritis

Pertti Ritvaniemi, Jarmo Körkkö, Jacky Bonaventure, Miikka Vikkula, James Hyland, Petteri Paassilta, Ilkka Kaitila, Helena Kääriäinen, Boris P. Sokolov, Markku Hakala, Pertti Mannismäki, Elena M. Meerson, Tero Klemola, Charlene Williams, Leena Peltonen, Kari I. Kivirikko, Darwin J. Prockop, Leena Ala‐kokko

Research output: Contribution to journalArticlepeer-review

55 Scopus citations

Abstract

Objective. To use a recently developed procedure for analysis of blood leukocyte DNA to detect mutations in the gene for type II procollagen (COL2A1) in patients with cartilage diseases ranging from early‐onset familial osteoarthritis (OA) to lethal chondrodysplasias. Methods. The technique of denaturing gradient gel electrophoresis was used to scan polymerase chain reaction (PCR) products from 45 exons and exonflanking sequences of the COL2A1 gene in more than 70 patients with cartilage diseases whose severity ranged from mild to lethal. PCR products with abnormal migrations were then sequenced. Results. Among the 3 patients with lethal hypochondrogenesis who were analyzed, all 3 were found to have a mutation in the COL2A1 gene. Among 17 patients with spondyloepiphyseal or spondyloepimetaphyseal dysplasia, 2 well‐defined and 2 probable mutations were found. Among 15 patients with the Wagner‐Stickler syndrome, 2 well‐defined and 2 probable mutations were found. Among 45 patients with early‐onset familial OA, 1 probable mutation was found. Conclusion. Using the procedure developed for analysis of the COL2A1 gene, mutations were detected in >20% of patients with chondrodysplasias and up to 2% of patients with early‐onset familial OA. However, these percentages are only minimal estimates because all possible mutations in the gene cannot be detected with this procedure.

Original languageEnglish (US)
Pages (from-to)999-1004
Number of pages6
JournalArthritis & Rheumatism
Volume38
Issue number7
DOIs
StatePublished - Jul 1995

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Rheumatology
  • Immunology
  • Pharmacology (medical)

Fingerprint

Dive into the research topics of 'Identification of col2a1 gene mutations in patients with chondrodysplasias and familial osteoarthritis'. Together they form a unique fingerprint.

Cite this