Table 4 Clinical features and complications of individuals as categorised by type of COL3A1 variant.
Group 1. Gly missense substitutions | Group 2. splice variants | Group 3. non-Gly missense substitutions | Group 4. Ins/Del/Dup | Group 5. haploinsufficiencyb | Group 6. nonsense substitutions | |
|---|---|---|---|---|---|---|
n = 39 | n = 10 | n = 3 | n = 2 | n = 6 | n = 3 | |
Located in triple helix domain | 39 (100%) | 10 (100%) | 2 (67%) | 2 (100%) | 0 (0%) | 0 (0%) |
Located in C-terminal domain | 0 (0%) | 0 (0%) | 1 (33%) | 0 (0%) | 4 (67%)a | 3 (100%) |
Female sex | 18 (46%) | 5 (50%) | 2 (67%) | 1 (50%) | 3 (50%) | 1 (33%) |
Index case | 13 (33%) | 8 (80%) | 1 (33%) | 1 (50%) | 2 (33%) | 0 (0%) |
Confirmed de novo cases | 9 (23%) | 3 (30%) | 1 (37%) | 0 (0%) | 0 (0%) | 0 (0%) |
Confirmed inherited cases | 30 (77%) | 6 (60%) | 2 (100%) | 2 (100%) | 6 (100%) | 3 (100%) |
Median age at last follow up | 11 (7–15) | 16 (7–17) | 8 (5–11) | 12 (9–15) | 16 (10–18) | 14 (13–14) |
Median age at diagnosis | 7 (2–12) | 8 (6–13) | 4 (3–9) | 8 (5–12) | 10 (6–16) | 11 (9–12) |
≥1 event in childhood | 8 (20%) | 3 (30%) | 0 (0%) | 2 (100%) | 0 (0%) | 0 (0%) |
Median age at first event | 5 (0–11) | 15 (14-16) | n/a | 8 (4–11) | n/a | n/a |
Vascular event | 1 (5%) | 0 (0%) | 0 (0%) | 1 (50%) | 0 (0%) | 0 (0%) |
Gastrointestinal event | 4 (11%) | 2 (20%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) |
Organ rupture event | 3 (7%) | 2 (20%) | 0 (0%) | 1 (50%) | 0 (0%) | 0 (0%) |
≥1 minor criteria present | 33 (89%) | 10 (100%) | 3 (100%) | 2 (100%) | 4 (67%) | 3 (100%) |
Excessive bruising | 30 (79%)a | 9 (90%) | 3 (100%) | 2 (100%) | 4 (67%) | 3 (100%) |
Thin translucent skin | 27 (75%)a | 8 (80%) | 2 (67%) | 2 (100%) | 3 (75%)a | 0 (0%)a |
Characteristic facial appearance | 16 (52%)a | 7 (70%) | 2 (67%) | 1 (100%)a | 2 (50%)a | 0 (0%)a |
Small joint hypermobility | 24 (86%)a | 9 (100%)a | 2 (100%)a | 2 (100%)a | 1 (33%)a | 2 (100%)a |
