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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