Molecular Analysis of the NF2 Tumor-Suppressor Gene in Schwannomatosis

The American Journal of Human Genetics - Tập 61 - Trang 1293-1302 - 1997
Lee B. Jacoby1,2, Deborah Jones2, Kevin Davis3, David Kronn4, M. Priscilla Short5, James Gusella3,2, Mia MacCollin3
1Neurosurgical Service, Massachusetts General Hospital, Charlestown
2Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown
3Neurology Service, Massachusetts General Hospital, Charlestown
4Division of Medical Genetics, New York Medical College, Valhalla, NY
5Departments of Neurology and Pathology, University of Chicago, Chicago

Tài liệu tham khảo

Anderson, 1984, Use of cyclosporin A in establishing Epstein-Barr virus–transformed human lymphoblastoid cell lines, In Vitro Cell Dev Biol, 20, 856, 10.1007/BF02619631 Arpin, 1994, Membrane-actin microfilament connections: an increasing diversity of players related to band 4.1, Curr Opin Cell Biol, 6, 136, 10.1016/0955-0674(94)90127-9 Berger, 1987, Agminated neurilemomas, J Am Acad Dermatol, 17, 891, 10.1016/S0190-9622(87)70276-X Bijlsma, 1994, Analysis of mutations in the SCH gene in schwannomas, Genes Chromosom Cancer, 11, 7, 10.1002/gcc.2870110103 Bourn, 1995, Highly polymorphic dinucleotide repeat at the NF2 gene, Hum Genet, 95, 712, 10.1007/BF00209494 Bouzas, 1993, Visual impairment in patients with neurofibromatosis 2, Neurology, 43, 622, 10.1212/WNL.43.3_Part_1.622 Buenger, 1993, Localized multiple neurilemmomas of the lower extremity, Cutis, 51, 36 Evans, 1992, A clinical study of type 2 neurofibromatosis, Q J Med 304 N Ser, 84, 603 Evans, 1997, Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study, J Neurol Neurosurg Psychiatry, 62, 361, 10.1136/jnnp.62.4.361 Gonzalez-Agosti, 1996, The merlin tumor suppressor localizes preferentially in membrane ruffles, Oncogene, 13, 1239 Gutmann, 1997, The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2, JAMA, 278, 51, 10.1001/jama.1997.03550010065042 Harkin, 1969, Tumors of the peripheral nervous system, 29 Honda, 1995, Neurofibromatosis 2 and neurilemmomatosis gene are identical, J Invest Dermatol, 104, 74, 10.1111/1523-1747.ep12613537 Jacoby, 1996, Frequency and distribution of NF2 mutations in schwannomas, Genes Chromosom Cancer, 17, 45, 10.1002/(SICI)1098-2264(199609)17:1<45::AID-GCC7>3.0.CO;2-2 Jacoby, 1994, Exon scanning for mutation of the NF2 gene in schwannomas, Hum Mol Genet, 3, 413, 10.1093/hmg/3.3.413 Kaiser-Kupfer, 1989, The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2, Arch Ophthalmol, 107, 541, 10.1001/archopht.1989.01070010555030 Lewis, 1981, Multifocal neurilemomas of median and ulnar nerves of the same extremity—case report, J Hand Surg [Am], 6, 406, 10.1016/S0363-5023(81)80054-8 MacCollin, 1997, Somatic mosaicism of the neurofibromatosis 2 tumor suppressor gene, Neurology, 48, A429 MacCollin, 1997, Schwannomatosis resulting from somatic mosaicism of the NF2 gene, Ann Neurol, 42, 513 MacCollin, 1994, Mutational analysis of patients with neurofibromatosis 2, Am J Hum Genet, 55, 314 MacCollin, 1996, Schwannomatosis: a clinical and pathologic study, Neurology, 46, 1072, 10.1212/WNL.46.4.1072 Marineau, 1993, Dinucleotide repeat polymorphism at the D22S268 locus, Hum Mol Genet, 2, 336, 10.1093/hmg/2.3.336-a Mautner, 1993, Neurofibromatosis 2 in the pediatric age group, Neurosurgery, 33, 92, 10.1227/00006123-199307000-00014 Parry, 1994, Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity, Am J Med Genet, 52, 450, 10.1002/ajmg.1320520411 Parry, 1996, Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities, Am J Hum Genet, 59, 529 Pulst, 1997, Spinal schwannomatosis, Neurology, 48, 787, 10.1212/WNL.48.3.787 Purcell, 1989, Schwannomatosis—an unusual variant of neurofibromatosis or a distinct clinical entity?, Arch Dermatol, 125, 390, 10.1001/archderm.1989.01670150080013 Ragge, 1995, Ocular abnormalities in neurofibromatosis 2, Am J Ophthalmol, 120, 634, 10.1016/S0002-9394(14)72210-X Rouleau, 1993, Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2, Nature, 363, 515, 10.1038/363515a0 Ruttledge, 1996, Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease, Am J Hum Genet, 59, 331 Sainz, 1993, CA-repeat polymorphism at the D22S430 locus adjacent to NF2, Hum Mol Genet, 2, 2203, 10.1093/hmg/2.12.2203 Sasaki, 1992, Congenital neurilemmomatosis, J Am Acad Dermatol, 26, 786, 10.1016/S0190-9622(08)80565-8 Shishishiba, 1984, Multiple cutaneous neurilemmomas as a skin manifestation of neurilemmomatosis, J Am Acad Dermatol, 10, 744, 10.1016/S0190-9622(84)70089-2 Stangl, 1997, Clonality of multiple meningiomas, J Neurosurg, 86, 853, 10.3171/jns.1997.86.5.0853 Trofatter, 1993, A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor, Cell, 72, 791, 10.1016/0092-8674(93)90406-G Weissenbach, 1992, A second generation linkage map of the human genome, Nature, 359, 794, 10.1038/359794a0 Wellenreuther, 1995, Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma, Am J Pathol, 146, 827