Table 1 Baseline patient demographics and clinical characteristics (N = 2093)
From: TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
Characteristics | Baseline data |
|---|---|
Age at diagnosis of TSC,a years, median (range) | 1.0 (0–69) |
Gender, n (%) | |
Male | 1009 (48.2) |
Female | 1084 (51.8) |
Patients with molecular testing, n (%) | 902 (43.1) |
Genetic testingb, n (%c) | 885 (98.1) |
No mutation identified | 125 (13.9) |
TSC1 mutation | 178 (19.7) |
TSC2 mutation | 571 (63.3) |
Variation type, n (%)d | |
Pathogenic mutation | 633 (93.8) |
Variant of unknown significance | 61 (9.0) |
Time from TSC clinical diagnosis to molecular testing, months | |
Mean (SD) | 79.6 (116.78) |
Median (range) | 22 (0–721) |
Patients with prenatal diagnosis, n (%) | 124 (5.9) |
Biological mother/father evaluated for TSC, n | |
Mother | 865 |
Father | 753 |
TSC inherited from one parent, n | |
Total | 290 |
Mother | 168 (95 clinically) |
Father | 122 (56 clinically) |
Patients with affected relatives, n (%) | |
Total | 478 (22.8) |
1 | 259 (12.4) |
2 | 116 (5.5) |
3 | 54 (2.6) |
> 3 | 52 (2.5) |
Patients with at least one blood relative participating in TOSCA, n (%) | 207 (9.9) |