메뉴 건너뛰기




Volumn 108, Issue 2, 1998, Pages 178-189

Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

EID: 0031929738     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005537-199802000-00005     Document Type: Article
Times cited : (48)

References (63)
  • 1
    • 0002467013 scopus 로고
    • Epidemiology of acoustic neuroma: Has the incidence increased during the last years?
    • Tos M, Thomsen J, eds. Amsterdam: Kugler
    • Tos M, Thomsen J, Charabi S. Epidemiology of acoustic neuroma: has the incidence increased during the last years? In: Tos M, Thomsen J, eds. Proceedings of the 1st International Conference on Acoustic Neuroma. Amsterdam: Kugler, 1992:3-6.
    • (1992) Proceedings of the 1st International Conference on Acoustic Neuroma , pp. 3-6
    • Tos, M.1    Thomsen, J.2    Charabi, S.3
  • 2
    • 0025737921 scopus 로고
    • Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma)
    • Fontaine B, Rouleau GA, Seizinger BR, et al. Molecular genetics of neurofibromatosis 2 and related tumors (acoustic neuroma and meningioma). Ann N Y Acad Sci 1991;615:338-43.
    • (1991) Ann N Y Acad Sci , vol.615 , pp. 338-343
    • Fontaine, B.1    Rouleau, G.A.2    Seizinger, B.R.3
  • 4
    • 11944267671 scopus 로고
    • A genetic study of type-2 neurofibromatosis in the United Kingdom. Part I. Prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity
    • Evans DG, Hudson SM, Donnai D, et al. A genetic study of type-2 neurofibromatosis in the United Kingdom. Part I. Prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity. J Med Genet 1992;29:841-6.
    • (1992) J Med Genet , vol.29 , pp. 841-846
    • Evans, D.G.1    Hudson, S.M.2    Donnai, D.3
  • 6
    • 0018274512 scopus 로고
    • Evidence of a maternal effect in central neurofibromatosis
    • Kanter W, Eldrige R. Evidence of a maternal effect in central neurofibromatosis. Lancet 1978;2:903.
    • (1978) Lancet , vol.2 , pp. 903
    • Kanter, W.1    Eldrige, R.2
  • 7
    • 0027080030 scopus 로고
    • A genetic study of type 2 neurofibromatosis in the United Kingdom. Part II. Guidelines for genetic counseling
    • Evans DG, Huson SM, Donnai D, et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. Part II. Guidelines for genetic counseling. J Med Genet 1992;29:847-52.
    • (1992) J Med Genet , vol.29 , pp. 847-852
    • Evans, D.G.1    Huson, S.M.2    Donnai, D.3
  • 8
    • 0001594018 scopus 로고
    • Case of tumors in the skull, dura mater, and brain
    • Wishart JH. Case of tumors in the skull, dura mater, and brain. Edinburgh Med Surg J 1922;18:393-7.
    • (1922) Edinburgh Med Surg J , vol.18 , pp. 393-397
    • Wishart, J.H.1
  • 9
    • 84944358578 scopus 로고
    • Bilateral acoustic neurofibromatosis: A clinical study and field survey of a family of five generations with bilateral deafness in thirty-eight members
    • Gardner WJ, Frazier CH. Bilateral acoustic neurofibromatosis: a clinical study and field survey of a family of five generations with bilateral deafness in thirty-eight members. Arch Neurol Psychiatry 1930;23:266-302.
    • (1930) Arch Neurol Psychiatry , vol.23 , pp. 266-302
    • Gardner, W.J.1    Frazier, C.H.2
  • 10
    • 0343883287 scopus 로고
    • Neurofibromatosis 2: Clinical features, genetic counseling and management issues
    • Huson SM, Hughes RAC, eds. London: Chapman & Hall Medical
    • Short MP, Martuza RL, Huson SM. Neurofibromatosis 2: clinical features, genetic counseling and management issues. In: Huson SM, Hughes RAC, eds. The Neurofibromatoses: A Pathogenetic and Clinical Overview. London: Chapman & Hall Medical; 1994:414-44.
    • (1994) The Neurofibromatoses: A Pathogenetic and Clinical Overview , pp. 414-444
    • Short, M.P.1    Martuza, R.L.2    Huson, S.M.3
  • 11
    • 0026422724 scopus 로고
    • Acoustic neuroma
    • Acoustic neuroma. NIH Consens Statement 1991;9(4):1-24.
    • (1991) NIH Consens Statement , vol.9 , Issue.4 , pp. 1-24
  • 14
    • 0002866934 scopus 로고
    • Ventriculography following the injection of air into the cerebral ventricles
    • Dandy WE. Ventriculography following the injection of air into the cerebral ventricles. Ann Surg 1918;68:5.
    • (1918) Ann Surg , vol.68 , pp. 5
    • Dandy, W.E.1
  • 15
    • 0344136565 scopus 로고
    • The acoustic tumors
    • Springfield, IL: Charles C. Thomas
    • Cushing H: The acoustic tumors. In: Intracranial Tumors. Springfield, IL: Charles C. Thomas; 1932;85-92.
    • (1932) Intracranial Tumors , pp. 85-92
    • Cushing, H.1
  • 16
    • 30444453182 scopus 로고
    • Surgical exposure of the internal auditory canal and its contents through the middle cranial fossa
    • House WF. Surgical exposure of the internal auditory canal and its contents through the middle cranial fossa. Laryngoscope 1961;71:1353-85.
    • (1961) Laryngoscope , vol.71 , pp. 1353-1385
    • House, W.F.1
  • 17
    • 0027479394 scopus 로고
    • Vestibular (acoustic) schwannomas: Histologic features in neurofibromatosis 2 and in unilateral cases
    • Sobel RA. Vestibular (acoustic) schwannomas: histologic features in neurofibromatosis 2 and in unilateral cases. J Neuropathol Exp Neurol 1993;52:106-113.
    • (1993) J Neuropathol Exp Neurol , vol.52 , pp. 106-113
    • Sobel, R.A.1
  • 19
    • 0002326943 scopus 로고
    • Clinical growth rate of acoustic schwannomas: Correlation with the growth fraction as defined by the monoclonal antibody Ki-67
    • Lesser T, Janzer R, Kleinhues P, Fisch U. Clinical growth rate of acoustic schwannomas: correlation with the growth fraction as defined by the monoclonal antibody Ki-67. Skull Base Surg 1991;1:11-5.
    • (1991) Skull Base Surg , vol.1 , pp. 11-15
    • Lesser, T.1    Janzer, R.2    Kleinhues, P.3    Fisch, U.4
  • 20
    • 0022495380 scopus 로고
    • Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma
    • Seizinger BR, Martuza RL, Gusella JF. Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 1986;322:644-7.
    • (1986) Nature , vol.322 , pp. 644-647
    • Seizinger, B.R.1    Martuza, R.L.2    Gusella, J.F.3
  • 21
    • 0023265746 scopus 로고
    • Common pathogenetic mechanism for three types in bilateral acoustic neurofibromatosis
    • Seizinger, BR, Rouleau GA, Ozelius LJ, et al. Common pathogenetic mechanism for three types in bilateral acoustic neurofibromatosis. Science 1987;236:317-9.
    • (1987) Science , vol.236 , pp. 317-319
    • Seizinger, B.R.1    Rouleau, G.A.2    Ozelius, L.J.3
  • 22
    • 0023687891 scopus 로고
    • Neurofibromatosis 2: Clinical and DNa linkage studies of a large kindred
    • Wertelecki W, Rouleau GA, Superneau DW, et al. Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred. N Engl J Med 1988;319(5):278-83.
    • (1988) N Engl J Med , vol.319 , Issue.5 , pp. 278-283
    • Wertelecki, W.1    Rouleau, G.A.2    Superneau, D.W.3
  • 23
    • 0026670463 scopus 로고
    • Neurofibromatosis type 2 appears to be a genetically homogeneous disease
    • Narod SA, Parry DM, Parboosingh J, et al. Neurofibromatosis type 2 appears to be a genetically homogeneous disease. Am J Hum Genet 1992;51:486-96.
    • (1992) Am J Hum Genet , vol.51 , pp. 486-496
    • Narod, S.A.1    Parry, D.M.2    Parboosingh, J.3
  • 24
    • 0026761279 scopus 로고
    • Constitutional translocation t(4;22) (q12;112.2) associated with neurofibromatosis type 2
    • Arai E, Ikeuchi T, Karasawa S, et al. Constitutional translocation t(4;22) (q12;112.2) associated with neurofibromatosis type 2. Am J Med Genet 1992;44:163-7.
    • (1992) Am J Med Genet , vol.44 , pp. 163-167
    • Arai, E.1    Ikeuchi, T.2    Karasawa, S.3
  • 25
    • 0027481761 scopus 로고
    • Mapping the breakpoint of a constitutional translocation on chromosome 22 in a patient with NF 2
    • Arai E, Tokino T, Imai T, et al. Mapping the breakpoint of a constitutional translocation on chromosome 22 in a patient with NF 2. Genes Chromosom Cancer 1993;6:235-8.
    • (1993) Genes Chromosom Cancer , vol.6 , pp. 235-238
    • Arai, E.1    Tokino, T.2    Imai, T.3
  • 29
    • 0024594238 scopus 로고
    • Cytogenetic and in situ DNA-hybridization studies in intracranial tumors of a patient with central neurofibromatosis
    • Wullich B, Kiechle-Schwarz M, Mayfrank L, Schempp W. Cytogenetic and in situ DNA-hybridization studies in intracranial tumors of a patient with central neurofibromatosis. Hum Genet 1989;82:31-4.
    • (1989) Hum Genet , vol.82 , pp. 31-34
    • Wullich, B.1    Kiechle-Schwarz, M.2    Mayfrank, L.3    Schempp, W.4
  • 30
    • 0025319007 scopus 로고
    • Assessment of chromosome 22 anomalies in neurinomas by combined karyotype and RFLP analysis
    • Couturier J, Delattre O, Kujas M, et al. Assessment of chromosome 22 anomalies in neurinomas by combined karyotype and RFLP analysis. Cancer Genet Cytogenet 1990;45: 55-62.
    • (1990) Cancer Genet Cytogenet , vol.45 , pp. 55-62
    • Couturier, J.1    Delattre, O.2    Kujas, M.3
  • 31
    • 0027405720 scopus 로고
    • A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
    • Trofatter JA, MacCollin MM, Rutter JL, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993;72:791-800.
    • (1993) Cell , vol.72 , pp. 791-800
    • Trofatter, J.A.1    MacCollin, M.M.2    Rutter, J.L.3
  • 32
    • 0027245423 scopus 로고
    • Alteration in a new gene encoding a putative membrane-organising protein causes neurofibromatosis type 2
    • Rouleau GA, Merel P, Lutchman M, et al. Alteration in a new gene encoding a putative membrane-organising protein causes neurofibromatosis type 2. Nature 1993;363:515-21.
    • (1993) Nature , vol.363 , pp. 515-521
    • Rouleau, G.A.1    Merel, P.2    Lutchman, M.3
  • 33
    • 0026802046 scopus 로고
    • A gene family consisting of ezrin, radixin and moesin: Its specific localization at actin filament/plasma membrane association sites
    • Sato N, Funayama N, Nagafuchi A, Yonemura S, Tsukita S, Tsukita S. A gene family consisting of ezrin, radixin and moesin: its specific localization at actin filament/plasma membrane association sites. J Cell Sci 1992;103:131-43.
    • (1992) J Cell Sci , vol.103 , pp. 131-143
    • Sato, N.1    Funayama, N.2    Nagafuchi, A.3    Yonemura, S.4    Tsukita, S.5    Tsukita, S.6
  • 34
    • 0029077524 scopus 로고
    • Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors
    • Louis DN, Ramesh V, Gusella JF. Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors. Brain Pathol 1995;5:163-72.
    • (1995) Brain Pathol , vol.5 , pp. 163-172
    • Louis, D.N.1    Ramesh, V.2    Gusella, J.F.3
  • 36
    • 0015043748 scopus 로고
    • Mutation and cancer: A statistical study
    • Knudson AG. Mutation and cancer: a statistical study. Proc Natl Acad Sci U S A 1971;68:820-3.
    • (1971) Proc Natl Acad Sci U S A , vol.68 , pp. 820-823
    • Knudson, A.G.1
  • 37
    • 0029029252 scopus 로고
    • The molecular genetics of vestibular schwannoma
    • Moffat DA, Irving R. The molecular genetics of vestibular schwannoma. J Laryngol Otol 1995;109:381-4.
    • (1995) J Laryngol Otol , vol.109 , pp. 381-384
    • Moffat, D.A.1    Irving, R.2
  • 38
    • 0029077821 scopus 로고
    • The neurofibromatosis type 2 gene product, schwannomin, suppresses growth of NIH 3T3 cells
    • Lutchman M, Rouleau GA. The neurofibromatosis type 2 gene product, schwannomin, suppresses growth of NIH 3T3 cells. Cancer Res 1995;55(11):2270-4.
    • (1995) Cancer Res , vol.55 , Issue.11 , pp. 2270-2274
    • Lutchman, M.1    Rouleau, G.A.2
  • 39
    • 0028343217 scopus 로고
    • Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas
    • Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM. Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet 1994;3:885-91.
    • (1994) Hum Mol Genet , vol.3 , pp. 885-891
    • Sainz, J.1    Huynh, D.P.2    Figueroa, K.3    Ragge, N.K.4    Baser, M.E.5    Pulst, S.M.6
  • 40
  • 42
    • 0028326668 scopus 로고
    • Exon scanning for mutation of the NF2 gene in schwannomas
    • Jacoby LB, MacCollin M, Louis DN, et al. Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet 1994;3:413-9.
    • (1994) Hum Mol Genet , vol.3 , pp. 413-419
    • Jacoby, L.B.1    MacCollin, M.2    Louis, D.N.3
  • 44
    • 0029004033 scopus 로고
    • Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas
    • Merel P, Hoang-Xuan K, Sanson M, et al. Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas. Genes Chromosom Cancer 1995;13: 1211-6.
    • (1995) Genes Chromosom Cancer , vol.13 , pp. 1211-1216
    • Merel, P.1    Hoang-Xuan, K.2    Sanson, M.3
  • 45
    • 8944256090 scopus 로고    scopus 로고
    • Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas
    • Welling DB, Guida M, Goll F, et al. Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas. Hum Genet 1996;98(9):189-93.
    • (1996) Hum Genet , vol.98 , Issue.9 , pp. 189-193
    • Welling, D.B.1    Guida, M.2    Goll, F.3
  • 46
    • 0028142499 scopus 로고
    • Mutational analysis of patients with neurofibromatosis 2
    • MacCollin M, Ramesh V, Jacoby LB, et al. Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet 1994;55:314-20.
    • (1994) Am J Hum Genet , vol.55 , pp. 314-320
    • MacCollin, M.1    Ramesh, V.2    Jacoby, L.B.3
  • 47
  • 48
    • 19244362433 scopus 로고    scopus 로고
    • Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
    • Ruttledge MH, Andermann AA, Phelan CM, et al. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 1996;59:331-42.
    • (1996) Am J Hum Genet , vol.59 , pp. 331-342
    • Ruttledge, M.H.1    Andermann, A.A.2    Phelan, C.M.3
  • 49
    • 0030012984 scopus 로고    scopus 로고
    • Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations
    • Mautner VF, Baser ME, Kluwe L. Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations. Hum Genet 1996;98:203-6.
    • (1996) Hum Genet , vol.98 , pp. 203-206
    • Mautner, V.F.1    Baser, M.E.2    Kluwe, L.3
  • 50
    • 0027435938 scopus 로고
    • The rapid detection of unknown mutations in nucleic acids
    • Grompe M. The rapid detection of unknown mutations in nucleic acids. Nat Genet 1993;5:111-7.
    • (1993) Nat Genet , vol.5 , pp. 111-117
    • Grompe, M.1
  • 51
    • 0022967463 scopus 로고
    • Recurrent mutations in haemophilia a give evidence for CpG mutation hotspots
    • Youssoufian H, Kazazian HH, Phillips DG, et al. Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature 1986;324:380-2.
    • (1986) Nature , vol.324 , pp. 380-382
    • Youssoufian, H.1    Kazazian, H.H.2    Phillips, D.G.3
  • 52
    • 0028796960 scopus 로고
    • High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons
    • Sainz J, Figueroa K, Baser ME, Mautner VF, Pulst SM. High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons. Hum Mol Genet 1995;4:137-9.
    • (1995) Hum Mol Genet , vol.4 , pp. 137-139
    • Sainz, J.1    Figueroa, K.2    Baser, M.E.3    Mautner, V.F.4    Pulst, S.M.5
  • 53
    • 0029994529 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
    • Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nature Med 1996;2(4):467-9.
    • (1996) Nature Med , vol.2 , Issue.4 , pp. 467-469
    • Howard, M.1    Frizzell, R.A.2    Bedwell, D.M.3
  • 54
    • 0028091283 scopus 로고
    • The neurofibromatosis type 2 gene is inactivated in schwannomas
    • Twist EC, Ruttledge MH, Rousseau M, et al. The neurofibromatosis type 2 gene is inactivated in schwannomas. Hum Mol Genet 1994;3:147-51.
    • (1994) Hum Mol Genet , vol.3 , pp. 147-151
    • Twist, E.C.1    Ruttledge, M.H.2    Rousseau, M.3
  • 55
    • 0345430145 scopus 로고
    • The diagnostic work-up of acoustic neuromas
    • Tos M, Thomsen J, eds. Amsterdam and New York: Kugler
    • Welling DB, Glasscock ME. The diagnostic work-up of acoustic neuromas. In: Tos M, Thomsen J, eds. Acoustic Neuroma. Amsterdam and New York: Kugler; 1991:101-5.
    • (1991) Acoustic Neuroma , pp. 101-105
    • Welling, D.B.1    Glasscock, M.E.2
  • 56
    • 0345430144 scopus 로고
    • Ear, nose, throat, and related structures
    • Chicago: American Medical Association
    • American Medical Association. Ear, nose, throat, and related structures. In: Guides to the Evaluation of Permanent Impairment, edn 3. Chicago: American Medical Association; 1991:173-9.
    • (1991) Guides to the Evaluation of Permanent Impairment, Edn 3 , pp. 173-179
  • 60
    • 0344568010 scopus 로고
    • Auditory brainstem implant
    • Jackler RK, Brackmann DE, eds. St. Louis: Mosby
    • Shannon RV, Portillo F. Auditory brainstem implant. In: Jackler RK, Brackmann DE, eds. Neurotology. St. Louis: Mosby; 1994:1387-95.
    • (1994) Neurotology , pp. 1387-1395
    • Shannon, R.V.1    Portillo, F.2
  • 61
    • 0026476083 scopus 로고
    • Cochlear implants in the management of bilateral acoustic neuromas
    • Hoffman RA, Kohan D, Cohen NL. Cochlear implants in the management of bilateral acoustic neuromas. Am J Otol 1992;13:525-9.
    • (1992) Am J Otol , vol.13 , pp. 525-529
    • Hoffman, R.A.1    Kohan, D.2    Cohen, N.L.3
  • 62
    • 0011790148 scopus 로고
    • Frequent NF 2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas
    • Deperez RHL, Blanchi AB, Groen NA, et al. Frequent NF 2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas. Am J Hum Genet 1994;54: 1022-9.
    • (1994) Am J Hum Genet , vol.54 , pp. 1022-1029
    • Deperez, R.H.L.1    Blanchi, A.B.2    Groen, N.A.3
  • 63
    • 85013025613 scopus 로고    scopus 로고
    • The neurofibromatoses
    • Jackler RK, Brackmann DE, eds. St. Louis: Mosby
    • Miyamoto RT, Roos KL, Campbell RL. The neurofibromatoses. In: Jackler RK, Brackmann DE, eds. Neurotology. St. Louis: Mosby; 1994.
    • Neurotology , pp. 1994
    • Miyamoto, R.T.1    Roos, K.L.2    Campbell, R.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.