Journal
ARTHRITIS & RHEUMATISM-ARTHRITIS CARE & RESEARCH
Volume 51, Issue 6, Pages 925-932Publisher
WILEY-LISS
DOI: 10.1002/art.20817
Keywords
Ary(75)-Cys mutation; COL2A1; phenotype
Categories
Ask authors/readers for more resources
Objective. 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. Methods. 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. Results. 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 Arg(75)-Cys mutation in the COL2A1 gene. Conclusion. This family is the fourth example of the Arg(75)-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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available