Multiple schwannomatosis caused by the recently described INI1 gene--molecular pathology, and implications for prognosis

Paul M Brennan, Antonio Barlow, Alistair Geraghty, David Summers, Michael M Fitzpatrick

Research output: Contribution to journalArticlepeer-review

Abstract

The most common genetic predisposition to multiple schwannoma growth is mutation of the neurofibromatosis type 2 gene. We describe a patient with multiple schwannomas and mutation in the recently described INI1 gene, which also predisposes to the disease. We explore the implications for prognosis and outcome.
Original languageEnglish
Pages (from-to)330-2
Number of pages3
JournalBritish Journal of Neurosurgery
Volume25
Issue number3
DOIs
Publication statusPublished - Jun 2011

Keywords

  • Aged
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • Genetic Predisposition to Disease
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Neurilemmoma
  • Neurofibromatoses
  • Neurofibromatosis 2
  • Prognosis
  • Skin Neoplasms
  • Transcription Factors
  • Treatment Outcome

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