Although hypermobile Ehlers-Danlos syndrome is thought to be a genetic condition, the underlying cause is unknown in most cases.
A small percentage of people with this condition have a change (mutation) in the TNXB gene. In these cases, elastic skin, easy bruising and other hematologic (blood) manifestations are generally not observed. Mutations in the TNXB gene reduce levels of a protein called tenascin-X in the body. Researchers believe that this disturbs the way that collagen is deposited and disrupts the network of elastic fibers in joint ligaments and tendons.
Last updated: 4/21/2017
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