A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes

Abstract

We identified a missense mutation (T185 right arrow C, Phe62 right arrow Ser) in the neurofibromatosis 2 (NF2) gene in a family with mild and severe NF2 phenotypes.This mutation was previously reported in an unrelated family in which all affected individuals had mild phenotypes. These data demonstrate a lack of correlation between NF2 genotype and NF2 phenotype for this mutation.NEUROLOGY 1996;47: 544-546