Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers-Danlos syndrome?

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Abstract
Little is known about the genetic basis of HT-EDS or BJHS. Recently, we have shown that haploinsufficiency for the extracellular matrix protein tenascin-X is associated with HT-EDS.5 Tenascin-X is abundantly expressed in almost all connective tissues, and a 140 kDa fragment is present in serum. The level of serum tenascin-X probably reflects the rate of tenascin-X synthesis in the connective tissues, because subjects who are heterozygous for a tenascin-X null allele express about half of the normal level in their serum.6 Clinically, tenascin-X haploinsufficient subjects show generalised joint hypermobility, arthralgia, and about 40% of them have abnormal skin.

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