title: Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas.
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.
authors.affiliation: Neurogenetics Laboratory, Cedars-Sinai Medical Center, University of California at Los Angeles 90048, USA.
authors.forename: J
authors.initials: J
authors.lastname: Sainz
authors.forename: K
authors.initials: K
authors.lastname: Figueroa
authors.forename: M E
authors.initials: ME
authors.lastname: Baser
authors.forename: S M
authors.initials: SM
authors.lastname: Pulst
mesh_terms: D002872:Chromosome Deletion; D004428:Ear Neoplasms / Q000235:genetics*; D005091:Exons; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D009154:Mutation; D009442:Neurilemmoma / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D014158:Transcription, Genetic; D014722:Vestibule, Labyrinth