Table 2

 Genotype-phenotype correlations for the age at onset of symptoms of NF2

CovariateSample average age at onset of symptoms (years)Model based estimated average age at onset of symptoms (years)95% CI
*Statistically significant.
†“Classical NF2” refers to people with full constitutional NF2 mutations, as opposed to somatic mosaics defined at the molecular level.
‡There are three separate models. In the first model, splice site mutations are analysed as a single class (“total”). In the second model, splice site mutations are assigned to the nearest exon, and the exons are divided by functional domains within the merlin protein (exons 1–9, 10–13, or 14–15). In the third model, splice site mutations are assigned to the nearest exon, and exons are divided into three equal groups by exon number (exons 1–5, 6–10, or 11–15). In each instance, the coefficients for the other covariates (for example, the intrafamilial correlation coefficient) are those from the model in which splice site mutations are analysed by equal groups by exon number. The values for these other covariates are almost identical in each of the three models.
§Statistical tests in the body of the table are comparisons to the reference group. The 95% CIs of differences in age at onset of symptoms (in years) between people with splice site mutations in different regions of the NF2 gene are as follows:
Exons 1–9 v 10–13: −11 to +1
Exons 1–9 v 14–15: −15 to −5*
Exons 10–13 v 11–15: −12 to +2
Exons 1–5 v 6–10: −5 to +3
Exons 1–5 v 11–15: −13 to −4*
Exons 6–10 v 11–15: −12 to −3*
CI, confidence interval
Type of NF2 mutation
    Nonsense or frameshift
        Classical NF2†1716(15 to 18) (reference group)
        Somatic mosaic29*29*(26 to 33) *
    Splice site (total)‡25*23*(21 to 25)*§
        Splice site (divided by functional domains)
         Exons 1–923*21*(18 to 23)*
         Exons 10–1326*26*(21 to 31)*
         Exons 14–1532*31*(27 to 35)*
        Splice site (divided by exon number)
         Exons 1–52120(17 to 23)
         Exons 6–1025*21*(18 to 25)*
         Exons 11–530*29*(26 to 32)*
    Missense30*31*(27 to 34)*
    Large deletion25*23*(20 to 25)*