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 |