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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)
  1. SD standard deviation, TSC tuberous sclerosis complex, TOSCA TuberOus SClerosis registry to increase disease Awareness
  2. 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