title: Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.
abstract: BACKGROUND
  Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by the NF2 tumor suppressor gene. However, the NF2 mutation characteristics in Korean patients are not sufficiently understood. In this study, we conducted a comprehensive mutational analysis in 7 Korean NF2 patients by performing direct sequencing and gene-dosage assessment.
  
  
  METHODS
  We analyzed all exons and flanking regions of NF2 by direct sequencing and screened the deletions or duplications involving NF2 by multiplex ligation-dependent probe amplification.
  
  
  RESULTS
  Four novel NF2 mutations, including 2 splice-site mutations (c.364-1G>A and c.886-3C>G), 1 frameshift mutation (c.524delA), and 1 missense mutation (c.397T>C; p.Cys133Arg), were identified in our patients. No large deletion or duplication was identified in our series. Subsequently, we identified an abnormal splicing product by using reverse transcription-PCR and direct sequencing in 2 patients with a novel splice-site mutation. The missense mutation c.397T>C was predicted to have harmful effects on protein function.
  
  
  CONCLUSIONS
  The detection rate of NF2 mutations in Korean patients (57%) is similar to those in other populations. Our results provided a greater insight into the mutational spectrum of the NF2 gene in Korean subjects.
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
authors.forename: Moon Woo
authors.initials: MW
authors.lastname: Seong
authors.forename: Im Kyung
authors.initials: IK
authors.lastname: Yeo
authors.forename: Sung Im
authors.initials: SI
authors.lastname: Cho
authors.forename: Chul Kee
authors.initials: CK
authors.lastname: Park
authors.forename: Seung Ki
authors.initials: SK
authors.lastname: Kim
authors.forename: Sun Ha
authors.initials: SH
authors.lastname: Paek
authors.forename: Dong Gyu
authors.initials: DG
authors.lastname: Kim
authors.forename: Hee Won
authors.initials: HW
authors.lastname: Jung
authors.forename: Hyunwoong
authors.initials: H
authors.lastname: Park
authors.forename: So Yeon
authors.initials: SY
authors.lastname: Kim
authors.forename: Ji Yeon
authors.initials: JY
authors.lastname: Kim
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
mesh_terms: D024509:3' Flanking Region / Q000235:genetics; D024506:5' Flanking Region / Q000235:genetics; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000235:genetics*; D022821:RNA Splice Sites; D056910:Republic of Korea; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D022821:RNA Splice Sites