Joint hypermobility syndromes - The pathophysiologic role of tenascin-x gene defects

Candidate genes for joint hypermobility have been limited to collagens or collagen-modifying enzymes. However, the identification of deficiency and haploinsufficiency of tenascin-X as a cause of joint hypermobility implies that the search for candidate genes should extend beyond collagens. In addition, the identification of proteins involved in joint hypermobility will provide more insight into the regulation of extracellular matrix architecture, e.g., deposition and maintenance of collagen fibrils and elastic fibers. This could have important implications in our understanding of clinical problems associated with joint hypermobility.