title: Neurofibromatosis 2 phenotypes and germ-line NF2 mutations determined by an RNA mismatch method and loss of heterozygosity analysis in NF2 schwannomas.
abstract: We used a novel RNase cleavage assay (NIRCA) to screen for neurofibromatosis 2 (NF2) mutations in NF2 schwannomas. Mutations were found in tumors in 16 of 20 patients. Eleven patients (55%) had loss of heterozygosity or loss of one allele, indicating that the mutation was a germ-line mutation. The phenotypes of these patients were consistent with previous NF2 genotype-phenotype correlation studies: patients with nonsense mutations had severe phenotypes, whereas those with splice-site or missense mutations had milder and variable phenotypes. These results confirm the utility of NIRCA as a rapid and convenient method for screening for germ-line NF2 mutations.
authors.affiliation: House Ear Institute, Los Angeles, CA 90057, USA.
authors.forename: G
authors.initials: G
authors.lastname: Hung
authors.forename: R
authors.initials: R
authors.lastname: Faudoa
authors.forename: M E
authors.initials: ME
authors.lastname: Baser
authors.forename: Z
authors.initials: Z
authors.lastname: Xue
authors.forename: L
authors.initials: L
authors.lastname: Kluwe
authors.forename: W
authors.initials: W
authors.lastname: Slattery
authors.forename: D
authors.initials: D
authors.lastname: Brackman
authors.forename: D
authors.initials: D
authors.lastname: Lim
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods*; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D019656:Loss of Heterozygosity; D008875:Middle Aged; D009154:Mutation; D009442:Neurilemmoma / Q000235:genetics*; D016518:Neurofibromatosis 2 / Q000235:genetics*; D010641:Phenotype; D012260:Ribonucleases
chemical_list: D012260:Ribonucleases