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Screening for germ-line mutations in the NF2 Gene

✍ Scribed by Philippe Mérel; Khé Hoang-Xuan; Marc Sanson; Emilia Bijlsma; Guy Rouleau; Pierre Laurent-Puig; Stephan Pulst; Michael Baser; Gilbert Lenoir; Jean Marc Sterkers; Jacques Philippon; François Resche; Victor F. Mautner; Georges Fischer; Theo Hulsebos; Alain Aurias; Olivier Delattre; Gilles Thomas

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
876 KB
Volume
12
Category
Article
ISSN
1045-2257

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✦ Synopsis

Neurofibromatosiis type 2 (NF2) is a monogenic dominantly inherited disease that predisposes t o the development of tumors of the nervous system, particularly meningiomas and schwannomas. The gene which, when altered, causes NF2, is localized on chromosome 22 and has recently been identified. The NF2 gene is also the site of somatic mutation in tumors, suggesting that it might have a turnor suppressor activity. We here report a screening method for the detection of point mutations in NF2 which takes advantage of denaturing gradient gel electrophoresis (DGGE). This method efficiently screens 95% of the coding sequence and 90% of introdexon junctions. When applied t o 9 I unrelated NF2 patients, it enabled the identification of 32 germ-line mutations. Since mutations are found in only one third of the patients, it is expected that mutations or deletions affecting the promoter and/or intronic regions of the NF2 gene occur frequently. The characterized mutations are preferentially located within the 5' half of the gene. Most of them are predicted to lead t o the synthesis of a truncated protein. A search for genotype/phenotype correlations showed that, at least in this series of patients, mild manifestations of the disease were associated with mutations which preserve the C-terminal end of the protein. Genes Chromosom Cancer I2: I 17-127 (1995).

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