Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 cene

Tadej Avcin, Outi Makitie, Miki Susic, Stephen Miller, Carter Thorne, Jerry Tenenbaum, Ronald M. Laxer, William G. Cole

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Objective. To evaluate an approach to the clinical, radiographic, and molecular diagnosis of an underlying skeletal dysplasia in adults presenting with early-onset polyarticular osteoarthritis (OA). Methods. We identified a family with 2 adults with polyarticular OA and a child with generalized arthralgia. General, musculoskeletal, ocular, and auditory evaluations were undertaken. Investigations included radiographs of symptomatic joints, analysis of serum inflammatory markers and joint fluid, and mutational analyses of the COL11A2 gene. Results. The 3 affected individuals had normal stature, mild mid-face hypoplasia, and hearing impairment, but normal eyes. Radiographs of the affected adults showed severe polyarticular OA but did not reveal diagnostic evidence of an underlying skeletal dysplasia. However, the child's radiographs showed enlarged epiphyses with an advanced bone age. The combination of skeletal, facial, and auditory features together with the absence of ocular features indicated that they had otospondylomegaepiphyseal dysplasia, also known as Stickler syndrome type III. The diagnosis was confirmed by identifying a mutation in the COL11A2 gene that encodes the pre-pro-α2(XI) chain of type XI collagen that is involved in type II collagen fibrillogenesis. Conclusion. Early-onset polyarticular OA may occur in adults without a known or obvious underlying skeletal dysplasia. This study provides an approach to the diagnosis of an underlying skeletal dysplasia in such individuals.

Original languageEnglish (US)
Pages (from-to)920-926
Number of pages7
JournalJournal of Rheumatology
Volume35
Issue number5
StatePublished - May 1 2008

Fingerprint

Osteoarthritis
Mutation
Collagen Type XI
Joints
Epiphyses
Collagen Type II
Arthralgia
Hearing Loss
Genes
Biomarkers
Bone and Bones
Megaepiphyseal dwarfism

All Science Journal Classification (ASJC) codes

  • Rheumatology
  • Immunology and Allergy
  • Immunology

Cite this

Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 cene. / Avcin, Tadej; Makitie, Outi; Susic, Miki; Miller, Stephen; Thorne, Carter; Tenenbaum, Jerry; Laxer, Ronald M.; Cole, William G.

In: Journal of Rheumatology, Vol. 35, No. 5, 01.05.2008, p. 920-926.

Research output: Contribution to journalArticle

Avcin, T, Makitie, O, Susic, M, Miller, S, Thorne, C, Tenenbaum, J, Laxer, RM & Cole, WG 2008, 'Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 cene', Journal of Rheumatology, vol. 35, no. 5, pp. 920-926.
Avcin, Tadej ; Makitie, Outi ; Susic, Miki ; Miller, Stephen ; Thorne, Carter ; Tenenbaum, Jerry ; Laxer, Ronald M. ; Cole, William G. / Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 cene. In: Journal of Rheumatology. 2008 ; Vol. 35, No. 5. pp. 920-926.
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