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© 1994 Oxford University Press

OTHER

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

David Bourn, Simon A. Carter, Susan Mason, D.Gareth R. Evans1 and Tom Strachan*

Department of Human Genetics, University of Newcastle upon Tyne, Ridley Building Claremont Place, Newcastle upon Tyne NE1 7RU 1Department of Medical Genetics, St Mary's Hospital Manchester M13 OJH, UK

* To whom correspondence should be addressed

Received January 25, 1994; Accepted March 8, 1994

The recent identification of the NF2 tumour suppressor gene has enabled large scale screening for pathological mutations in the gene. We have sought germline mutations In the NF2 gene by SSCP and heteroduplex analysis of cDNA and genomic DNA samples followed by cloning and sequencing of mutant alleles. In the present report we describe 11 putative pathological mutations, including five nonsense mutations, three short insertions or deletions cauing frameshifts and three missense mutations. Most stop mutations and frameshift mutations were found In Individuals expressing a severe phenotype while one of the three missense mutations was associated with a mild phenotype. Four unrelated NF2 patients of the 93 tested were found to have identical nonsense mutations caused by a C to T transition (C169) in a CpG dinucleotide, which is a potential mutational hotspot in the NF2 tumour suppressor gene.


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