Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas

Human Genetics

Volumn 97, Issue 1, 1996, Pages 121-123

  Sainz, Jesús ^a,b   Figueroa, Karla ^a   Baser, Michael E ^a   Pulst, Stefan Matthias ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BENIGN TUMOR; CLINICAL ARTICLE; DELETION MUTANT; EXON; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; NEURILEMOMA; NEUROFIBROMATOSIS; PRIORITY JOURNAL;

EID: 0030044452     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF00218846     Document Type: Article

References (23)

1. Arakawa H, Hayashi N, Nagase H, Ogawa M, Nakamura Y (1994) Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers. Hum Mol Genet 3:565-568
2. Bianchi AB, Hara T, Ramesh V, Gao J, Klein-Szanto AJP, Morin F, Menon AG, Trofatter JA, Gusella JF, Seizinger BR, Kely N (1994) Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nat Genet 6:185-192
3. Bourn D, Carter SA, Mason S, Gareth D, Evans R, Strachan T (1994) Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. Hum Mol Genet 3:813-816
4. Evans DGR, Hudson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harri R (1992) A genetic study of type 2 neurofibromatosis in the United Kinedom. J Med Genet 29:841-846
5. Huynh D, Nechiporuk T, Pulst SM (1994) Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains. Hum Mol Genet 3:1075-1079
6. Jacoby LB, MacCollin M, Louis DN, Mohney T, Rubio M-P, Pulaski K, Trofatter JA, Kley N, Seizinger B, Ramesh V, Gusella JA (1994) Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet 3:413-419
7. Knudson AG, Hethcote HW, Brown BW (1975) Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma. Proc Natl Acad Sci USA 72:5116-5120
8. Lekanne Deprez RH, Bianchi AB, Groen NA, Seizinger BR, Hagemeijer A, Drunnen E, Bootsma D, Koper JW, Avezaat CJJ, Kley N, Zwarethoff EC (1994) Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas. Am J Hum Genet 54:1022-1029
9. Luna EJ, Hitt AL (1992) Cytoskeleton-plasma membrane interactions. Science 258:955-964
10. Marineau C, Rouleau GA (1991) Dinucleotide repeat polymorphism at the D22S264 locus. Nucleic Acids Res 20:1430
11. Marineau C, Baron C, Delattre O, Zucman J, Thomas G, Rouleau GA (1993) Dinculeotide repeat polymorphism at the D22S268 locus. Hum Mol Genet 2:336
12. Martuza R, Eldridge R (1988) Neurofibromatosis 2. N Engl J Med 318:684-688
13. Pykett MJ, Murphy M, Harnish PR, George DL (1994) The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts. Hum Mol Genet 3:559-564
14. Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, Pulst S-M, Lenoir G, Bijlsma E, Fashold R, Dumanski J. Jong P de, Parry D, Eldridge R, Aurias A, Delatte O, Thomas G (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363:515-521
15. Rubio MP, Correa KM, Ramesh V, MacCollin M, Jacoby LB, Deimling A von, Gusella JF, Louis DN (1994) Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas. Cancer Res 54:45-47
16. Ruttledge MH, Sarrazin J, Rangaratnam S, Phclan CM, Twist E, Merel P, Delattre O, Thomas G, Noedensjold M, Collins VP, Dumanski JP, Rouleau GA (1994) Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas Nat Genet 6:180-184
17. Sainz J, Baser ME, Ragge NK, Nelson RA, Pulst SM (1993a) Loss of alleles in vestibular schwannomas. Arch Otolaryng Head Neck Surg 119:1285-1288
18. Sainz J, Rasmussen M, Nechiporuk A, Vissing H, Cheng X, Korenberg JR, Pulst SM (1993b) Dinucleotide polymorphism at the D22S351 locus. Hum Mol Genet 2:1749
19. Sainz J, Kim U-J, Simon M, Nechiporuk A, Pulst S-M (1993) Microsatellite polymorphism in the neurofibromatosis 2 disease region at the locus D22S430 (1993c) Hum Mol Genet 2:2203
20. Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst S-M (1994) Mutations in the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet 3:885-891
21. Seizinger BR, Martuza RL, Gusella JF (1986) Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 322:644-647
22. Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, Haase VH, Ambrose CM, Munroe D, Bove C, Haines JL, Martuza RL, MacDonald ME, Seizinger BR, Short MP, Buckler AJ, Gusella JF (1993) A novel moesin-, ezrin-. radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72: 791-800
23. Twist E, Ruttledge MH, Rousseau M, Sanson M, Papi L, Merel P, Delattre O, Thomas G, Rouleau G (1994) The neurofibromatosis type 2 gene is inactivated in schwannomas. Hum Mol Genet 3:147-151