Ehlers Danlos Syndrome with COL5A1 Variant c.3257C>T

Abstract

Ehlers Danlos Syndrome (EDS) is a connective tissue disorder characterized by genotypic and phenotypic heterogeneity, with joint hypermobility and hyperelasticity of the skin being two of the most common manifestations. An estimated 90% of Classical EDS cases are associated with genetic mutations in COL5A1 or COL5A2. The genetic cause of EDS Hypermobility Type, on the other hand, has been widely regarded as unknown. We present a case of a patient diagnosed clinically with Classical EDS, in whom genetic testing reveals a COL5A1 variant that has been previously reported in the literature only once, in association with EDS Hypermobility Type.