Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2000 Dec;37(12):897-904.
doi: 10.1136/jmg.37.12.897.

Neurofibromatosis type 2

D G Evans  1 , M Sainio, M E Baser
Affiliations
Review

Neurofibromatosis type 2

D G Evans et al. J Med Genet. 2000 Dec.

Erratum in

  • J Med Genet 2001 Oct;38(10):727a

Abstract

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Am J Hum Genet. 1998 Sep;63(3):727-36 - PubMed
    1. Am J Otol. 1998 Sep;19(5):638-43 - PubMed
    1. N Engl J Med. 1998 Nov 12;339(20):1426-33 - PubMed
    1. Hum Mol Genet. 1998 Dec;7(13):2051-5 - PubMed
    1. Hum Mol Genet. 1998 Dec;7(13):2095-101 - PubMed