Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas

D. Bradley Welling, Marco Guida, Frederick Goll, Dennis K. Pearl, Michael E. Glasscock, Dennis G. Pappas, Fred H. Linthicum, David Rogers, Thomas W. Prior

Research output: Contribution to journalArticlepeer-review

63 Scopus citations


Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas. The extensive screening has resulted in the identification of 33 unique mutations. Similarly to other human genes, we have shown that the CpG sites are more highly mutable in the NF2 gene. The frequency, distribution, and types of mutations were shown to differ between the sporadic and familial tumors. The majority of the mutations resulted in protein truncation and were consistent with more severe phenotype, however three missense mutations were identified during this study and were all associated with milder manifestations of the disease.

Original languageEnglish (US)
Pages (from-to)189-193
Number of pages5
JournalHuman genetics
Issue number2
StatePublished - 1996

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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