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

Neurology. 1996 Aug;47(2):544-6. doi: 10.1212/wnl.47.2.544.

Abstract

We identified a missense mutation (T185-->C, Phe62-->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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Chromosome Mapping
  • Genes, Neurofibromatosis 2 / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Neurofibromatosis 2 / genetics*
  • Phenotype*
  • Polymorphism, Single-Stranded Conformational