Table 3.
Type of COL3A1 mutation, first major complication and oral score of the 17 patients with vascular Ehlers–Danlos syndrome (vEDS)
| Patient | Age (years) | Sex (M/F) |
COL3A1 mutation |
First major complication | Oral score | |
| DNA | Protein | |||||
| 1 | 49 | F | c.665G>A | p.Gly222Asp | U | 4 |
| 2 | 30 | F | c.2285G>A | p.Gly762Asp | V | NA |
| 3 | 23 | M | c.575G>A | p.Gly192Asp | D | 3 |
| 4 | 46 | F | c.575G>A | p.Gly192Asp | D | 2 |
| 5 | 19 | F | c.1241G>T | p.Gly414Val | V | 4 |
| 6 | 44 | F | c.647G>C | p.Gly216Ala | U | 4 |
| 7 | 33 | F | c.1662+1G>A | exon 23 skipping | D | 4 |
| 8 | 20 | F | c.3364−2A>G | exon 46 skipping | N | 3 |
| 9 | 55 | F | c.755G>T | p.Gly252Val | U | 4 |
| 10 | 20 | F | c.755G>T | p.Gly252Val | N | 3 |
| 11 | 37 | M | c.952-106_996+45delinsGCTTAA | exon 14 skipping | V | 2 |
| 12 | 40 | F | c.951+1G>A | exon 13 skipping | V | 3 |
| 13 | 24 | F | c.1662+1G>A | exon 23 skipping | V | 2 |
| 14 | 34 | M | c.2150G>A | p.Gly717Asp | V | 2 |
| 15 | 24 | F | c.898−1G>C | exon 13 skipping | V | 2 |
| 16 | 50 | M | c.2671G>A | p.Gly891Arg | V | 0 |
| 17 | 29 | M | c.1330G>A | p.Gly444Arg | V | 1 |
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.