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J Med Genet 40:758-760 doi:10.1136/jmg.40.10.758
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Genotype-phenotype correlations for cataracts in neurofibromatosis 2

Table 2

Multivariate probit model for cataracts

Covariate Estimated prevalence of cataracts from model (%) Parameter estimate (SE) RR 95% CI
RR=relative risk, CI=confidence interval, SE=standard error.
Age at diagnosis (per year) 0.15 (0.58) 1.00 0.98 to 1.02
Exchangeable dependence (familial correlation) 0.11 (0.15)
Type of NF2 mutation
    Nonsense or frameshift
    Classical NF2 45 Reference group Reference group
    Somatic mosaic 17 −0.82 (0.18) 0.20 0.10 to 0.40
    Splice site 39 −0.17 (0.19) 0.71 0.34 to 1.50
    Missense 28 −0.48 (0.26) 0.38 0.14 to 1.08
    Large deletion 28 −0.47 (0.23) 0.39 0.16 to 0.98
    Unfound
        People with new mutations
            Age at onset <20 years 39 −0.15 (0.15) 0.74 0.40 to 1.36
            Age at onset ⩾20 years 9 −1.20 (0.28) 0.09 0.03 to 0.28
    Inherited cases 36 −0.23 (0.34) 0.63 0.16 to 2.45

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