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

Gene Hung, Rodolfo Faudoa, Michael E. Baser, Zhu Xue, Lan Kluwe, William Slattery, Derald Brackman, David J. Lim

Research output: Contribution to journalArticle

10 Scopus citations

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. Copyright (C) 2000 Elsevier Science Inc.

Original languageEnglish (US)
Pages (from-to)167-168
Number of pages2
JournalCancer Genetics and Cytogenetics
Volume118
Issue number2
DOIs
StatePublished - Apr 15 2000

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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