Skip to main content

Table 4 Distribution of TSC1 and TSC2 mutations.

From: Molecular and clinical analyses of 84 patients with tuberous sclerosis complex

 

N

MM

NM

FM

SM

Total

TSC1mutaions

      

Familial

2

0

1

1

0

2 (3 %)

Sporadic

7

0

4

3

0

7 (11 %)

Total

9

0 (0 %)

5 (8 %)

4 (6 %)

0 (0 %)

9 (14 %)

TSC2 mutations

      

Familial

8

4

0

4

0

8 (13 %)

Sporadic

47

8

15

17

7

47 (73 %)

Total

55

12 (19 %)

15 (23 %)

21 (33 %)

7 (11 %)

55 (86 %)

  1. N: screening numbers.
  2. MM: missense mutations.
  3. NM: nonsense mutations.
  4. FM: frameshift/in-frame mutations.
  5. SM: splicing site mutations.