Table 1.
Baseline patient demographics and clinical characteristics (N = 2093)
| 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) |
SD standard deviation, TSC tuberous sclerosis complex, TOSCA TuberOus SClerosis registry to increase disease Awareness
aData available for 2054 patients; bInformation on the type of mutation was missing for 6 patients; 5 patients had both TSC1 and TSC2 mutations; cPercentages calculated considering the number of patients with molecular testing as the denominator value. dThe count (n) includes 19 patients who had both variation types