Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Neeti GhaliDuncan BakerAngela F BradyNigel BurrowsElena CerviDeirdre CilliersMichael FrankDominique P GermainDavid J S HulmesMarie-Line JacquemontPeter KannuHenrietta LefroyAnne LegrandF Michael PopeLisa RobertsonAnthony VandersteenKate von KlempererRenarta WarburtonMargo WhitefordFleur S van DijkPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
The clinical data demonstrate the overlap between the different EDS subtypes and underline the importance of next-generation sequencing gene panel analysis. The three different Glu>Lys variants point toward a new variant type in COL3A1 causative of vEDS, which has consistent clinical features. This is important knowledge for COL3A1 variant interpretation. Further follow-up data are required to establish the severity of tissue fragility complications compared with patients with other recognized molecular causes of vEDS.