title: Frequent type 2 neurofibromatosis gene transcript mutations in sporadic intramedullary spinal cord ependymomas.
abstract: OBJECTIVE
  To further investigate the role of Type 2 neurofibromatosis (NF2) gene transcript mutations in the sporadically occurring counterparts of NF2-associated tumors.
  
  
  METHODS
  Reverse transcription-polymerase chain reaction followed by agarose gel electrophoresis, single strand conformation polymorphism analysis, and automated deoxyribonucleic acid sequence analysis were used to screen for mutations in the NF2 gene transcript in seven unrelated patients with sporadic intramedullary spinal cord ependymomas.
  
  
  RESULTS
  Five of seven intramedullary spinal cord ependymomas harbored detectable mutations. All of these mutations occurred in the region of the transcript that is homologous to known cytoskeletal proteins and resulted in significant truncation of the predicted protein product.
  
  
  CONCLUSIONS
  Mutations of the NF2 transcript occur in the majority of sporadic intramedullary spinal cord ependymomas. These mutations are frequent in a region of the transcript that is homologous to a family of cytoskeletal proteins, and they probably render the protein product inactive. These results add to the body of knowledge concerning the role of the NF2 gene transcript in tumorigenesis.
authors.affiliation: Department of Neurological Surgery, Columbia Presbyterian Medical Center, New York, New York, USA.
authors.forename: B D
authors.initials: BD
authors.lastname: Birch
authors.forename: J P
authors.initials: JP
authors.lastname: Johnson
authors.forename: A
authors.initials: A
authors.lastname: Parsa
authors.forename: R D
authors.initials: RD
authors.lastname: Desai
authors.forename: J T
authors.initials: JT
authors.lastname: Yoon
authors.forename: C A
authors.initials: CA
authors.lastname: Lycette
authors.forename: Y M
authors.initials: YM
authors.lastname: Li
authors.forename: J N
authors.initials: JN
authors.lastname: Bruce
mesh_terms: D000328:Adult; D003598:Cytoskeletal Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D004806:Ependymoma / Q000235:genetics*; D005260:Female; D016515:Genes, Neurofibromatosis 2 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017421:Sequence Analysis; D013120:Spinal Cord Neoplasms / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins