Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).
Arthritis Rheum
; 51(6): 925-32, 2004 Dec 15.
Article
em En
| MEDLINE
| ID: mdl-15593085
ABSTRACT
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 Arg75-Cys mutation in the COL2A1 gene.CONCLUSION:
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.
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Base de dados:
MEDLINE
Assunto principal:
Osteoartrite
/
Estatura
/
Predisposição Genética para Doença
/
Colágeno Tipo II
/
Perda Auditiva Neurossensorial
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Arthritis Rheum
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Finlândia