Since identification of the very first mutation in the FBN1 in MFS5, 6, causative mutations have subsequently been identified in a dozen others including COL3A1 and COL5A2 mutations associated with EDS pathogenesis7, 8, TGFBR2 mutations associated with Marfan-like syndrome9, and TGFBR1, TGFBR2 and SMAD3 associated with LDS10–12. This evidence concerns the gene TGFBR2 and Ehlers-Danlos syndrome.