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Table 4 Mutations identified in 529 families with Neurofibromatosis type 2 in the Manchester (UK) genetics laboratory

From: Neurofibromatosis type 2 (NF2): A clinical and molecular review

Type of mutation

Detection in 2nd generation (n = 108)

Detection in sporadic non mosaic patients (% non mosaic)

Mosaic mutations (% of mosaic)

Total

Splice site

35 (32%)

43 (22%)

3 (4%)

80 (15%)

MLPA positive

23 (20%)

28 (14%)

11 (15%)

62 (12%)

FSD

18 (17%)

36 (18%)

20 (26%)

74 (13%)

Nonsense

16 (15%)

67 (35%)

28 (37%)

111 (22%)

Missense

7 (6%)

5 (3%)

1 (1%)

13 (2.5%)

FSI

3 (3%)

11 (7%)

6 (8%)

20 (4%)

IFD

1 (1%)

1

3 (4%)

5 (1%)

Ring 22

0

0

3 (4%)

3

Not found

7 (7%)

230 (55%)

158

166/529 (31%)

Total

108

191/421 (45%)

72

529