Familial OA with classic clinical and radiographic findings is tightly linked to the COL2A1 gene. Systematic screening of the 54 exons did not, however, reveal any mutations; this suggests that the mutation may lie in the promoter region or within the introns of this 35-kb gene.
Vikkula, M., Palotie, A., Ritvaniemi, P., Ott, J., Ala-Kokko, L., Sievers, U., Aho, K., & Peltonen, L. (1993). Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene. Arthritis and rheumatism, 36(3), 401-409. https://hdl.handle.net/2078.5/160392 (Original work published 1993)