Familial osteochondritis dissecans

Definition:

Osteochondritis dissecans is defined as a separation of articular cartilage and subchondral bone from the joint surface, affecting the knee, ankle and elbow joints. The disease is caused by heterozygous missense mutation in Aggrecan (ACAN) which is a major cartilage component.

References:

[1]. E-L Stattin, et al. Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. Osteoarthritis Cartilage. 2008 Aug;16(8):890-6. [Content Brief]

[2]. Eva-Lena Stattin, et al. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am J Hum Genet. 2010 Feb 12;86(2):126-37. [Content Brief]

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