Table 1 Case series
Case no. | Age (years) | Sex | sCFF side | Treatment | Outcome | IMT (mm) | COL3A1 variant cDNA | Protein | Type |
|---|---|---|---|---|---|---|---|---|---|
1 | 34 | F | Left | ICA sacrifice | Alive | 0.383 | c.665G>A | p.(Gly222Asp) | Glycine |
2 | 30 | F | Right | CCF closure (embolization) | Alive | 0.354 | c.2735G>A | p.(Gly912Asp) | Glycine |
3 | 13 | F | Left | CCF closure (embolization) | Alive | 0.339 | c.951+1G>A | p.? | Splice |
4 | 21 | F | Left | CCF closure (embolization) | Alive | 0.372 | c.2553+1G>A | p.? | Splice |
5 | 33 | F | Right | CCF closure (embolization) | Alive | 0.394 | c.1662+1G>A | p.? | Splice |
6 | 42 | F | Left | ICA sacrifice | Alive | 0.387 | c.3441_3485dup | p.(Lys1150_Gly1164dup) | Duplication |
7 | 27 31 | F | Right Left | CCF closure (embolization) | Died aged 38 | 0.319 | c.2222G>A | p.(Gly741Asp) | Glycine |
8 | 38 | F | Right | CCF closure (embolization) | Alive | 0.503 | c.2095G>C | p.(Gly699Arg) | Glycine |
9 | 25 | F | Right | CCF closure (embolization) | Alive | NR | c.898-1G>C | p.? | Splice |
10 | 36 | F | Right | CCF closure (embolization) | Alive | 0.435 | c.2293G>C | p.(Gly252Arg) | Glycine |
11 | 28 | M | Right | CCF closure (embolization) | Alive | NR | c.[1347+1G>A];[=] | p.? | Splice |
12 | 49 | F | Right | CCF closure (embolization) | Alive | 0.417 | c.755G>T | p.(Gly252Val) | Glycine |
13 | 41 | F | Left | Died before treatment | Died aged 41 | NR | c.826G>A | p.(Gly276Ser) | Glycine |
Case no. | Age at molecular diagnosis (years) | 1st vascular event | Age at 1st vascular event (years) | Acute arterial events (other than sCCF) | 1st digestive event | Age at 1st digestive event (years) | |||
1 | 38 | sCCF | 34 | Yes | Incisional hernia | 32 | |||
2 | 35 | sCCF | 30 | Yes | – | – | |||
3 | 32 | sCCF | 13 | Yes | Postoperative adhesive intestinal obstruction | 25 | |||
4 | 22 | sCCF | 21 | No | – | – | |||
5 | 28 | sCCF | 33 | Yes | Intestinal perforation | 21 | |||
6 | 38 | AR | 33 | Yes | – | – | |||
7 | 28 | sCCF | 27 | Yes | Diverticulitis | 26 | |||
8 | 32 | sCCF | 38 | Yes | – | – | |||
9 | 25 | sCCF | 25 | Yes | Occlusion on paresis | 25 | |||
10 | 45 | AVF | 24 | Yes | – | – | |||
11 | 28 | sCCF | 28 | No | – | – | |||
12 | 49 | AR | 48 | Yes | Sigmoiditis | 48 | |||
13 | 40 | ADO | 21 | Yes | – | – | |||