Condition | Nonsense mutation | Frameshift mutation | |||||||
---|---|---|---|---|---|---|---|---|---|
No. | % of total | No. | % of total | ||||||
USVS, unilateral sporadic vestibular schwannoma. *Of the 172 USVS patients, 104 had information on age at diagnosis. The age of 40 years was chosen to define USVS age categories because USVS typically occur after this age.23 Difference in proportion of frameshift in classic NF2 or mosaic NF2 compared to USVS, Fisher’s exact test, p<0.001; difference in proportion of frameshift mutations between age categories in USVS, Fisher’s exact test, p = 0.011. | |||||||||
Classic NF2 | 191 | 57 | 145 | 43 | |||||
Mosaic NF2 | 39 | 62 | 24 | 38 | |||||
All USVS* | 42 | 24 | 130 | 76 | |||||
USVS diagnosed at ages <40 years | 13 | 52 | 12 | 48 | |||||
USVS diagnosed at ages ⩾40 years | 18 | 23 | 61 | 77 |