In a patient with classic Ehlers-Danlos, testing for the most common mutation is negative. You suspect as an alternative candidate gene:
ExplanationTenascin X has been implicated in some patients with EDS who do not have collagen V mutations, which are most commonly found in classic EDS. Collagen I is more closely associated with osteogenesis imperfecta but also EDS-arthrochalasia type and lysyl hydroxylase, encoded by the PLOD1 gene is associated with the kyphoscoliosis subtype of EDS.
