Neurofibromatosis 2 phenotypes and germ-line NF2 mutations determined by an RNA mismatch method and loss of heterozygosity analysis in NF2 schwannomas

Cancer Genet Cytogenet. 2000 Apr 15;118(2):167-8. doi: 10.1016/s0165-4608(99)00201-0.

Abstract

We used a novel RNase cleavage assay (NIRCA) to screen for neurofibromatosis 2 (NF2) mutations in NF2 schwannomas. Mutations were found in tumors in 16 of 20 patients. Eleven patients (55%) had loss of heterozygosity or loss of one allele, indicating that the mutation was a germ-line mutation. The phenotypes of these patients were consistent with previous NF2 genotype-phenotype correlation studies: patients with nonsense mutations had severe phenotypes, whereas those with splice-site or missense mutations had milder and variable phenotypes. These results confirm the utility of NIRCA as a rapid and convenient method for screening for germ-line NF2 mutations.

MeSH terms

  • Adolescent
  • Adult
  • Child, Preschool
  • DNA Mutational Analysis / methods*
  • Genes, Neurofibromatosis 2*
  • Humans
  • Loss of Heterozygosity*
  • Middle Aged
  • Mutation*
  • Neurilemmoma / genetics*
  • Neurofibromatosis 2 / genetics*
  • Phenotype
  • Ribonucleases

Substances

  • Ribonucleases