Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1)
Version of Record online: 8 DEC 2004
Copyright © 2004 by the American College of Rheumatology
Arthritis Care & Research
Volume 51, Issue 6, pages 925–932, 15 December 2004
How to Cite
Löppönen, T., Körkkö, J., Lundan, T., Seppänen, U., Ignatius, J. and Kääriäinen, H. (2004), Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1). Arthritis & Rheumatism, 51: 925–932. doi: 10.1002/art.20817
- Issue online: 8 DEC 2004
- Version of Record online: 8 DEC 2004
- Manuscript Accepted: 4 APR 2004
- Manuscript Received: 9 DEC 2003
- Arg75-Cys mutation;
To define the clinical, radiologic, and molecular genetic characteristics of a family with early progressive osteoarthritis mimicking childhood rheumatoid arthritis, Scheuermann-like changes of the spine, tall stature, short 3 and 4 metatarsals, and moderate sensorineural hearing loss.
We describe a 22-year-old woman and her 54-year-old mother with early progressive osteoarthritis mimicking childhood rheumatoid arthritis. The index case, her mother, and 3 other family members underwent a physical examination, anthropometric measurements, and radiologic studies. Their DNA was sequenced for the procollagen type II (COL2A1) gene.
Mild scoliosis was noticed in the proband at the age of 6 years, and at the age of 7 years large Schmorl's nodes were found in the vertebrae L1-2. At the age of 11 years, changes resembling Scheuermann's disease were seen, mostly in the thoracic vertebrae. At the same age, she began to have arthralgia in the weight-bearing joints and osteoarthritis progressed fast, necessitating a hip prosthesis at the age of 18 years. The proband and her mother had bilateral sensorineural hearing loss of moderate degree. Both mother and daughter had an Arg75-Cys mutation in the COL2A1 gene.
This family is the fourth example of the Arg75-Cys mutation in the COL2A1 gene, which appears to lead to a clearly recognizable phenotype. The finding suggests that sensorineural hearing loss may be a part of this syndrome.