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a Department of
Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester
M13 0JH, UK, b Finnish
Institute of Occupational Health, Tapeliuksenkato 41, FIN-00250
Helsinki, Finland, c Los Angeles,
California
Correspondence to: Dr Evans, gevans{at}central.cmht.nwest.nhs.uk
Neurofibromatosis type 2 is an often devastating autosomal
dominant disorder which, until relatively recently, was confused with
its more common namesake neurofibromatosis type 1. Subjects who inherit
a mutated allele of the NF2 gene inevitably
develop schwannomas, affecting particularly the superior vestibular
branch of the 8th cranial nerve, usually bilaterally. Meningiomas and other benign central nervous system tumours such as ependymomas are
other common features. Much of the morbidity from these tumours results
from their treatment. It is now possible to identify the NF2 mutation in most families, although
about 20% of apparently sporadic cases are actually mosaic for their
mutation. As a classical tumour suppressor, inactivation of the
NF2 gene product, merlin/schwannomin, leads
to the development of both NF2 associated and sporadic tumours. Merlin/schwannomin associates with proteins at the cell cytoskeleton near the plasma membrane and it inhibits cell proliferation, adhesion, and migration.
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 A. D. Sperfeld, C. Hein, J. M. Schroder, A. C. Ludolph, and C. O. Hanemann Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2 Brain, May 1, 2002; 125(5): 996 - 1004. [Abstract] [Full Text] [PDF]
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 C.-X. Sun, V. A. Robb, and D. H. Gutmann Protein 4.1 tumor suppressors: getting a FERM grip on growth regulation J. Cell Sci., January 11, 2002; 115(21): 3991 - 4000. [Abstract] [Full Text] [PDF]
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M. E Baser, J M Friedman, and D G. R Evans Maternal gene effect in neurofibromatosis 2: fact or artefact? J. Med. Genet., November 1, 2001; 38(11): 783 - 784. [Full Text] [PDF]
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