Table 1.
Baseline patient demographics and clinical characteristics (N = 2216)
| Characteristics | Baseline data |
|---|---|
| Age at diagnosis of TSCa, years, median (range) | 1 (<1–69) |
| Gender, n (%) | |
| Male | 1062 (47.9) |
| Female | 1154 (52.1) |
| Patients with molecular testing, n (%) | 1000 (45.1) |
| Genetic testing, n (%)b | |
| No mutation identified | 144 (14.4) |
| TSC1 mutationc | 197 (19.7) |
| TSC2 mutationc | 644 (64.4) |
| Both TSC1 and TSC2 mutations | 6 (0.6) |
| Variation type, n (%)d | |
| Pathogenic mutation | 678 (67.8) |
| Variant of unknown significance | 66 (6.6) |
| Patients with prenatal diagnosis, n (%) | 144 (6.5) |
| Patients with at least one blood relative participating in TOSCA, n (%) | 230 (10.4) |
a
Data available for 2216 patients.
b
Information on the type of mutation was missing for nine patients.
c
The count (n) includes six patients who had both TSC1 and TSC2 mutations.
d
The count (n) includes 23 patients who had both variation types.