{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T02:49:26Z","timestamp":1792032566851,"version":"4.4.0"},"reference-count":88,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,12,1]]},"abstract":"<jats:p>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 <jats:italic>NF2<\/jats:italic> 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<jats:italic>NF2<\/jats:italic> 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<jats:italic>NF2 <\/jats:italic>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.<\/jats:p>","DOI":"10.1136\/jmg.37.12.897","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:40:22Z","timestamp":1027752022000},"page":"897-904","source":"Crossref","is-referenced-by-count":160,"title":["Neurofibromatosis type 2"],"prefix":"10.1136","volume":"37","author":[{"given":"D Gareth R","family":"Evans","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Sainio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E","family":"Baser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2000,12,1]]},"reference":[{"key":"2025100511033009000_37.12.897.1","first-page":"393","article-title":"Case of tumours in the skull, dura mater, and brain.","volume":"18","author":"Wishart","year":"1822","journal-title":"Edinburgh Med Surg J"},{"key":"2025100511033009000_37.12.897.2","unstructured":"Von Recklinghausen F (1882) Ueber die multiplen fibroma der haut und ihre beziehung zu den multiplen neuromen. (A Hirschwald, Berlin)."},{"key":"2025100511033009000_37.12.897.3","unstructured":"Cushing H (1917) Tumors of the nervus acusticus and the syndrome of the cerebello-pontine angle. (WB Saunders, Philadelphia)."},{"key":"2025100511033009000_37.12.897.4","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1930.02220080050005"},{"key":"2025100511033009000_37.12.897.5","unstructured":"Crowe FW Schull WJ Neal JV (1956) A clinical pathological and genetic study of multiple neurofibromatosis. (Charles C Thomas, Springfield, Illinois)."},{"key":"2025100511033009000_37.12.897.6","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90534-4"},{"key":"2025100511033009000_37.12.897.7","doi-asserted-by":"publisher","DOI":"10.1038\/329246a0"},{"key":"2025100511033009000_37.12.897.8","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"2025100511033009000_37.12.897.9","first-page":"486","article-title":"Neurofibromatosis type 2 appears to be a genetically homogenous disease.","volume":"51","author":"Narod","year":"1992","journal-title":"Am J Hum Genet"},{"key":"2025100511033009000_37.12.897.10","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90406-G"},{"key":"2025100511033009000_37.12.897.11","doi-asserted-by":"publisher","DOI":"10.1038\/363515a0"},{"key":"2025100511033009000_37.12.897.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.12.841"},{"key":"2025100511033009000_37.12.897.13","first-page":"71","article-title":"Population based analysis of sporadic and NF2-associated meningiomas and schwannomas.","volume":"54","author":"Antinheimo","year":"2000","journal-title":"J Neurol"},{"key":"2025100511033009000_37.12.897.14","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1212\/WNL.30.8.851","article-title":"Central neurofibromatosis with bilateral acoustic neuroma. Genetic, clinical and biochemical distinctions from peripheral neurofibromatosis.","volume":"30","author":"Kanter","year":"1980","journal-title":"Neurology"},{"key":"2025100511033009000_37.12.897.15","first-page":"603","article-title":"A clinical study of type 2 neurofibromatosis.","volume":"84","author":"Evans","year":"1992","journal-title":"Q J Med"},{"key":"2025100511033009000_37.12.897.16","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1136\/bmj.1.3093.496","article-title":"A familial form of acoustic tumour.","volume":"10","author":"Feiling","year":"1920","journal-title":"BMJ"},{"key":"2025100511033009000_37.12.897.17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.944"},{"key":"2025100511033009000_37.12.897.18","doi-asserted-by":"publisher","DOI":"10.1086\/302004"},{"key":"2025100511033009000_37.12.897.19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520411"},{"key":"2025100511033009000_37.12.897.20","doi-asserted-by":"publisher","DOI":"10.1097\/00006123-199605000-00004"},{"key":"2025100511033009000_37.12.897.21","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.12.847"},{"key":"2025100511033009000_37.12.897.22","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1136\/adc.81.6.496","article-title":"Paediatric presentation of type 2 neurofibromatosis.","volume":"81","author":"Evans","year":"1998","journal-title":"Arch Dis Child"},{"key":"2025100511033009000_37.12.897.23","first-page":"92","article-title":"Neurofibromatosis 2 in the pediatric age group.","volume":"33","author":"Mautner","year":"1993","journal-title":"Neurosurgery"},{"key":"2025100511033009000_37.12.897.24","unstructured":"Baser ME, Evans DGR. Lack of sex-ratio distortion in NF2.Am J Med Genet (in press).."},{"key":"2025100511033009000_37.12.897.25","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1997.03890480059008"},{"key":"2025100511033009000_37.12.897.26","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880130202"},{"key":"2025100511033009000_37.12.897.27","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1989.01070010555030"},{"key":"2025100511033009000_37.12.897.28","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/S0002-9394(14)72210-X","article-title":"Ocular abnormalities in neurofibromatosis 2.","volume":"120","author":"Ragge","year":"1995","journal-title":"Am J Ophthalmol"},{"key":"2025100511033009000_37.12.897.29","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1212\/WNL.43.3_Part_1.622","article-title":"Visual impairment in patients with neurofibromatosis 2.","volume":"43","author":"Bouzas","year":"1993","journal-title":"Neurology"},{"key":"2025100511033009000_37.12.897.30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1227\/00006123-198201000-00001","article-title":"Bilateral acoustic neuromas: clinical aspects, pathogenesis and treatment.","volume":"10","author":"Martuza","year":"1982","journal-title":"Neurosurgery"},{"key":"2025100511033009000_37.12.897.31","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1097\/00005072-199303000-00002","article-title":"Vestibular (acoustic) schwannomas: histological features in neurofibromatosis 2 and in unilateral cases.","volume":"52","author":"Sobel","year":"1993","journal-title":"J Neuropathol Exp Neurol"},{"key":"2025100511033009000_37.12.897.32","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1017\/S002221510012328X","article-title":"Type 2 neurofibromatosis: the need for supraregional care?","volume":"107","author":"Evans","year":"1993","journal-title":"J Laryngol Otol"},{"key":"2025100511033009000_37.12.897.33","first-page":"638","article-title":"Hearing preservation in neurofibromatosis type 2.","volume":"19","author":"Slattery","year":"1998","journal-title":"Am J Otol"},{"key":"2025100511033009000_37.12.897.34","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.165.4.7676998"},{"key":"2025100511033009000_37.12.897.35","first-page":"495","article-title":"Acoustic tumor growth: implications for treatment choices.","volume":"20","author":"Fucci","year":"1999","journal-title":"Am J Otol"},{"key":"2025100511033009000_37.12.897.36","first-page":"A63","article-title":"The natural history of neurofibromatosis 2.","volume":"63 (suppl 4)","author":"Baser","year":"1998","journal-title":"Am J Hum Genet"},{"key":"2025100511033009000_37.12.897.37","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03550010065042"},{"key":"2025100511033009000_37.12.897.38","doi-asserted-by":"publisher","DOI":"10.1054\/bjoc.1999.1030"},{"key":"2025100511033009000_37.12.897.39","first-page":"197","article-title":"A clinical study of type 1 neurofibromatosis in north west England.","volume":"36","author":"McGaughran","year":"1999","journal-title":"J Med Genet"},{"key":"2025100511033009000_37.12.897.40","doi-asserted-by":"crossref","first-page":"248","DOI":"10.3171\/jns.1991.74.2.0248","article-title":"Benign spinal nerve sheath tumours. Their occurrence sporadically and in neurofibromatosis types 1 and 2.","volume":"74","author":"Halliday","year":"1991","journal-title":"J Neurosurg"},{"key":"2025100511033009000_37.12.897.41","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/111.6.1355"},{"key":"2025100511033009000_37.12.897.42","doi-asserted-by":"crossref","first-page":"610","DOI":"10.3171\/jns.1997.87.4.0610","article-title":"Proliferation potential and histological features in neurofibromatosis 2-associated and sporadic meningiomas.","volume":"87","author":"Antinheimo","year":"1997","journal-title":"J Neurosurg"},{"key":"2025100511033009000_37.12.897.43","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1136\/jnnp.66.6.764","article-title":"The probability of bilateral disease in individuals presenting with a unilateral vestibular schwannoma.","volume":"6","author":"Evans","year":"1999","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025100511033009000_37.12.897.44","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(82)90063-2"},{"key":"2025100511033009000_37.12.897.45","first-page":"478","article-title":"Analysis of chromosome 22 deletions in neurofibromatosis related tumours.","volume":"51","author":"Wolff","year":"1992","journal-title":"Am J Hum Genet"},{"key":"2025100511033009000_37.12.897.46","doi-asserted-by":"publisher","DOI":"10.1016\/S0194-5998(97)70289-4"},{"key":"2025100511033009000_37.12.897.47","doi-asserted-by":"publisher","DOI":"10.1038\/322644a0"},{"key":"2025100511033009000_37.12.897.48","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.6.701"},{"key":"2025100511033009000_37.12.897.49","first-page":"314","article-title":"Mutational analysis of patients with neurofibromatosis 2.","volume":"55","author":"MacCollin","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2025100511033009000_37.12.897.50","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1093\/hmg\/3.5.813","article-title":"Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.","volume":"5","author":"Bourn","year":"1994","journal-title":"Hum Mol Genet"},{"key":"2025100511033009000_37.12.897.51","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/gcc.2870120206","article-title":"Screening for germline mutations in the NF2 gene.","volume":"12","author":"Merel","year":"1995","journal-title":"Genes Chrom Cancer"},{"key":"2025100511033009000_37.12.897.52","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.6.470"},{"key":"2025100511033009000_37.12.897.53","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050255"},{"key":"2025100511033009000_37.12.897.54","first-page":"529","article-title":"Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.","volume":"59","author":"Parry","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025100511033009000_37.12.897.55","first-page":"331","article-title":"Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.","volume":"59","author":"Ruttledge","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025100511033009000_37.12.897.56","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.6.450"},{"key":"2025100511033009000_37.12.897.57","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980518)77:3<228::AID-AJMG8>3.0.CO;2-L"},{"key":"2025100511033009000_37.12.897.58","first-page":"A126","article-title":"Germ-line NF2 mutation type, location, and phenotype in neurofibromatosis 2.","volume":"65 (suppl 4)","author":"Friedman","year":"1999","journal-title":"Am J Hum Genet"},{"key":"2025100511033009000_37.12.897.59","first-page":"69","article-title":"A mutation in the neurofibromatosis type 2 tumour suppressor gene giving rise to widely different clinical phenotypes in two unrelated individuals.","volume":"55","author":"Bourn","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2025100511033009000_37.12.897.60","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.11.934"},{"key":"2025100511033009000_37.12.897.61","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.13.2051"},{"key":"2025100511033009000_37.12.897.62","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.13.2095"},{"key":"2025100511033009000_37.12.897.63","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.1.137"},{"key":"2025100511033009000_37.12.897.64","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199811123392003"},{"key":"2025100511033009000_37.12.897.65","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1212\/WNL.43.9.1753","article-title":"Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers.","volume":"43","author":"Ruttledge","year":"1993","journal-title":"Neurology"},{"key":"2025100511033009000_37.12.897.66","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1212\/WNL.47.5.1269","article-title":"Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations.","volume":"47","author":"Baser","year":"1996","journal-title":"Neurology"},{"key":"2025100511033009000_37.12.897.67","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.9.746"},{"key":"2025100511033009000_37.12.897.68","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.62.4.361"},{"key":"2025100511033009000_37.12.897.69","doi-asserted-by":"publisher","DOI":"10.1086\/301633"},{"key":"2025100511033009000_37.12.897.70","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12613537"},{"key":"2025100511033009000_37.12.897.71","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1016\/0002-9378(74)90212-9","article-title":"Acoustic neuroma in the last months of pregnancy.","volume":"9","author":"Allen","year":"1974","journal-title":"Am J Obstet Gynecol"},{"key":"2025100511033009000_37.12.897.72","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1017\/S0022215100131445","article-title":"Variation in expression of the gene for type 2 neurofibromatosis: absence of a gender effect on vestibular schwannoma.","volume":"9","author":"Evans","year":"1995","journal-title":"J Laryngol Otol"},{"key":"2025100511033009000_37.12.897.73","first-page":"A155","article-title":"Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2).","volume":"65 (suppl 4)","author":"Kumar","year":"1999","journal-title":"Am J Hum Genet"},{"key":"2025100511033009000_37.12.897.74","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960906)64:4<563::AID-AJMG7>3.0.CO;2-Q"},{"key":"2025100511033009000_37.12.897.75","doi-asserted-by":"crossref","first-page":"2249","DOI":"10.1242\/jcs.110.18.2249","article-title":"Neurofibromatosis 2 tumor suppressor protein colocalizes with ezrin and CD44 and associates with actin-containing cytoskeleton.","volume":"10","author":"Sainio","year":"1997","journal-title":"J Cell Sci"},{"key":"2025100511033009000_37.12.897.76","first-page":"1339","article-title":"The merlin tumor suppressor localizes preferentially in membrane ruffles.","volume":"13","author":"Gonzalez-Agosti","year":"1996","journal-title":"Oncogene"},{"key":"2025100511033009000_37.12.897.77","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4547(19980201)51:3<403::AID-JNR13>3.0.CO;2-7"},{"key":"2025100511033009000_37.12.897.78","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.335"},{"key":"2025100511033009000_37.12.897.79","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.2.267"},{"key":"2025100511033009000_37.12.897.80","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1242\/jcs.112.6.895","article-title":"Sainio M. Zhao F. Heiska L. Vaheri A. Carp\u00e9n O. Homotypic and heterotypic interaction of the neurofibromatosis 2 tumor suppressor protein merlin and the ERM protein ezrin.","volume":"112","author":"Gr\u00f6nholm","year":"1999","journal-title":"J Cell Sci"},{"key":"2025100511033009000_37.12.897.81","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.49.34507"},{"key":"2025100511033009000_37.12.897.82","doi-asserted-by":"crossref","first-page":"3081","DOI":"10.1242\/jcs.112.18.3081","article-title":"Ezrin regulates cell-cell and cell-matrix adhesion, a possible role with E-cadherin\/beta-catenin.","volume":"112","author":"Hiscox","year":"1999","journal-title":"J Cell Sci"},{"key":"2025100511033009000_37.12.897.83","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202871"},{"key":"2025100511033009000_37.12.897.84","doi-asserted-by":"publisher","DOI":"10.1016\/S0955-0674(99)80013-1"},{"key":"2025100511033009000_37.12.897.85","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1201418"},{"key":"2025100511033009000_37.12.897.86","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.1.267"},{"key":"2025100511033009000_37.12.897.87","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1097\/00005072-199704000-00007","article-title":"Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas.","volume":"56","author":"Huynh","year":"1997","journal-title":"J Neuropathol Exp Neurol"},{"key":"2025100511033009000_37.12.897.88","first-page":"A61","article-title":"Predictors of survival in neurofibromatosis 2.","volume":"65 (suppl 4)","author":"Baser","year":"1999","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.37.12.897","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:03:42Z","timestamp":1759687422000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.37.12.897"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,12,1]]},"references-count":88,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2000,12,1]]},"published-print":{"date-parts":[[2000,12,1]]}},"alternative-id":["10.1136\/jmg.37.12.897"],"URL":"https:\/\/doi.org\/10.1136\/jmg.37.12.897","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,12,1]]}}}