Characteristics of 831 people with NF2 by type of NF2 mutation
| Characteristic | Type of NF2 mutation | ||||
|---|---|---|---|---|---|
| Nonsense or frameshift | Splice site | Missense | Large deletion | ||
| Classical* | Somatic mosaic | ||||
| *“Classical NF2” refers to people with full constitutional NF2 mutations, as opposed to somatic mosaics defined at the molecular level; †excludes 67 inherited cases who were asymptomatic at the time of diagnosis of NF2. | |||||
| SD, standard deviation. | |||||
| Number of people/families | 340/272 | 40 | 263/128 | 73/25 | 115/63 |
| Inheritance (%) | |||||
| New mutations | 60 | 100 | 32 | 15 | 40 |
| Inherited cases | 40 | 0 | 68 | 85 | 60 |
| Gender (%) | |||||
| Female | 45 | 50 | 50 | 44 | 50 |
| Male | 55 | 50 | 50 | 56 | 50 |
| Age, mean (SD) (years) | |||||
| Onset of symptoms of NF2† | 16 (10) | 29 (11) | 23 (12) | 29 (14) | 24 (11) |
| Diagnosis of NF2 | 22 (12) | 39 (12) | 29 (15) | 36 (19) | 28 (14) |
| Vestibular schwannoma (%) | |||||
| None | 7 | 11 | 13 | 7 | 5 |
| Unilateral | 4 | 13 | 8 | 7 | 6 |
| Bilateral | 89 | 76 | 79 | 86 | 89 |
| Intracranial meningioma (%) | |||||
| Absent | 31 | 41 | 60 | 71 | 69 |
| Present | 69 | 59 | 40 | 29 | 31 |