Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas

Hum Genet. 1996 Jan;97(1):121-3. doi: 10.1007/BF00218846.

Abstract

Vestibular schwannomas (VSs) are common benign tumors of Schwann cell origin and are frequently found in patients with neurofibromatosis type 2 (NF2). We analyzed 15 sporadic VSs for mutations in the tumors, two of which contained loss of heterozygosity (LOH). One of the tumors contained a novel mutation, a 19-bp deletion in exon 4. The two other tumors contained an identical mutation, a complete exon 4 deletion. The exon 4 deletion represents the second most frequently reported mutation of the NF2 gene in VSs.

Publication types

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

MeSH terms

  • Chromosome Deletion
  • Ear Neoplasms / genetics*
  • Exons
  • Genes, Neurofibromatosis 2*
  • Humans
  • Mutation*
  • Neurilemmoma / genetics*
  • Polymerase Chain Reaction
  • Sequence Deletion
  • Transcription, Genetic
  • Vestibule, Labyrinth*