Splice site | Missense | Large deletion | Unfound (mutations) | Total | |||||
---|---|---|---|---|---|---|---|---|---|
Nonsense or frameshift | Inherited cases | People with new mutations (age of onset (y)) | |||||||
Classical | Somatic mosaic | <20 years | ⩾20 years | ||||||
†Excludes 15 inherited cases who were asymptomatic at the time of diagnosis of NF2. | |||||||||
Comparisons to people with classical NF2 and nonsense or frameshift mutations (p values are computed based on an assumption of independence, which is violated to a slight degree owing to families with multiple affected relatives): Somatic mosaics: age at onset, age at diagnosis, current age, p<0.001; cataracts, p=0.053. Splice site mutations: age at onset, p=0.001; age at diagnosis, p=0.023; current age, p=0.043; intracranial meningiomas, p=0.024. Missense mutations: age at onset, p=0.003; age at diagnosis, p=0.006; current age, p<0.001; intracranial meningiomas, p=0.049. Large deletions: age at onset, p=0.032. | |||||||||
Unfound mutations: Inherited cases: intracranial meningiomas, p=0.007. People with new mutations and age at onset 20 years: cataracts, p<0.001. SD, standard deviation. | |||||||||
No. of people/families | 73/56 | 17/17 | 47/25 | 15/6 | 25/14 | 14/11 | 23/23 | 41/41 | 255/190 |
Age (y), mean (SD) | |||||||||
Onset of symptoms† | 16 (9) | 32 (12) | 23 (12) | 30 (14) | 21 (9) | 25 (16) | 12 (6) | 34 (9) | 22 (12) |
Diagnosis | 21 (12) | 38 (12) | 27 (15) | 38 (21) | 23 (9) | 29 (17) | 22 (12) | 40 (11) | 28 (15) |
Current | 27 (12) | 44 (12) | 32 (16) | 45 (21) | 30(11) | 35 (20) | 29 (12) | 46 (13) | 34 (16) |
Intracranial meningiomas (%) | 56 | 59 | 34 | 27 | 52 | 14 | 70 | 51 | 48 |
Cataracts (%) | 45 | 18 | 38 | 27 | 28 | 36 | 39 | 10 | 33 |