Table 1

 Mutation spectra in NF2 related conditions

ConditionNonsense mutationFrameshift mutation
No.% of totalNo.% 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 NF21915714543
Mosaic NF239622438
All USVS*422413076
USVS diagnosed at ages <40 years13521248
USVS diagnosed at ages ⩾40 years18236177