Table 3

Type of COL3A1 mutation, first major complication and oral score of the 17 patients with vascular Ehlers–Danlos syndrome (vEDS)

PatientAge (years)Sex (M/F)COL3A1 mutationFirst major complicationOral score
DNAProtein
149Fc.665G>Ap.Gly222AspU4
230Fc.2285G>Ap.Gly762AspVNA
323Mc.575G>Ap.Gly192AspD3
446Fc.575G>Ap.Gly192AspD2
519Fc.1241G>Tp.Gly414ValV4
644Fc.647G>Cp.Gly216AlaU4
733Fc.1662+1G>Aexon 23 skippingD4
820Fc.3364−2A>Gexon 46 skippingN3
955Fc.755G>Tp.Gly252ValU4
1020Fc.755G>Tp.Gly252ValN3
1137Mc.952-106_996+45delinsGCTTAAexon 14 skippingV2
1240Fc.951+1G>Aexon 13 skippingV3
1324Fc.1662+1G>Aexon 23 skippingV2
1434Mc.2150G>Ap.Gly717AspV2
1524Fc.898−1G>Cexon 13 skippingV2
1650Mc.2671G>Ap.Gly891ArgV0
1729Mc.1330G>Ap.Gly444ArgV1
  • The independent oral variables associated to vEDS were integrated into an oral score and each significant variable weighted according to the significance of the statistical association.

  • D, digestive; F, female; M, male; N, none; U, uterine; V, vascular.