A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.

@article{Bourn1994AMI,
  title={A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.},
  author={David M. Bourn and Shelly A. Carter and D Gareth R Evans and Judith A. Goodship and H. C. Coakham and Trish Strachan},
  journal={American journal of human genetics},
  year={1994},
  volume={55 1},
  pages={
          69-73
        }
}
We have sought mutations in the recently identified neurofibromatosis type 2 (NF2) tumor-suppressor gene in a large panel of NF2 patients, using PCR-based SSCP and heteroduplex analysis, followed by cloning and sequencing of appropriate PCR products. Two unrelated NF2 patients were found to have identical nonsense mutations caused by a C-to-T transition in a CpG dinucleotide that is a potential mutational hot spot in the NF2 tumor-suppressor gene. Unexpectedly, the two individuals had widely… CONTINUE READING

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