Table 1

Characteristics of study population by type of NF2 mutation

Splice siteMissenseLarge deletionUnfound (mutations)Total
Nonsense or frameshiftInherited casesPeople with new mutations (age of onset (y))
ClassicalSomatic 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/families73/5617/1747/2515/625/1414/1123/2341/41255/190
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)
    Diagnosis21 (12)38 (12)27 (15)38 (21)23 (9)29 (17)22 (12)40 (11)28 (15)
    Current27 (12)44 (12)32 (16)45 (21)30(11)35 (20)29 (12)46 (13)34 (16)
Intracranial meningiomas (%)565934275214705148
Cataracts (%)451838272836391033