Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

Human Genetics

Volumn 97, Issue 5, 1996, Pages 632-637

  De Vitis, Lucia Rosaria ^a   Tedde, Andrea ^a   Vitelli, Francesca ^a   Ammannati, Franco ^b   Mennonna, Pasquale ^b   Bigozzi, Umberto ^a   Montali, Enrico ^a   Papi, Laura ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN;

ARTICLE; CHROMOSOME 22Q; CONTROLLED STUDY; DELETION MUTANT; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MENINGIOMA; MISSENSE MUTATION; NEUROFIBROMATOSIS; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TUMOR SUPPRESSOR GENE;

BASE SEQUENCE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DNA; DNA PRIMERS; DNA, NEOPLASM; EXONS; FRAMESHIFT MUTATION; GENES, NEUROFIBROMATOSIS 2; HUMANS; INTRONS; MENINGEAL NEOPLASMS; MENINGIOMA; MOLECULAR SEQUENCE DATA; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION;

EID: 0030012073     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050107     Document Type: Article

References (39)

1. Akagi K, Kurahashi H, Arita N, Hayakawa T, Monden M, Mori T, Takai S, Nishisho I (1995) Deletion mapping of the long arm of chromosome 22 in human meningiomas. Int J Cancer 60 : 178-182
2. Arinami T, Kondo I, Hamaguchi H, Nakajima S (1986) Multifocal meningiomas in a patient with a constitutional ring chromosome 22. J Med Genet 23 : 178-180
3. Bianchi AB, Hara T, Ramesh V, Gao J, Lein-Szanto AJP, Morin F, Menon AG, Trofatter JA, Gusella JF, Seizinger BR, Kley N (1994) Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types. Nature Genet 6 : 185-192
4. Bijlsma EK, Mérel P, Bosch DA, Westerveld A, Delattre O, Thomas G, Hulsebos TJM (1994) Analysis of mutations in the SCH aene in schwannomas. Genes Chromosomes Cancer 11 : 7-14
5. Boum D, Carter S, 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
6. Budowle B, Chakravarty R, Giusti AM, Eisenberg AJ, Allen RC (1991) Analysis of the VNTR locus D1S80 by the PCR followed by high resolution PAGE. Am J Hum Genet 48 : 137-144
7. Buetow KH, Duggan D, Yang B, Ludwigsen S, Puck J, Porter J, Budarf M, Spielman R, Emanuel BS (1993) A microsatellite based multipoint index map of human chromosome 22. Genomics 18 : 329-339
8. Dumanski JP, Carlbom E, Collins VP, Nordenskjold M (1987) Deletion mapping of a locus on human chromosome 22 involved in the oncogenesis of meningioma. Proc Natl Acad Sci USA 84 : 9275-9279
9. Dumanski JP, Rouleau GA, Nordenskjold M, Collins VP (1990) Molecular genetic analysis of chromosome 22 in 81 cases of meningioma. Cancer Res 50 : 5863-5867
10. Evans DGR, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R (1992) A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness and confirmation of maternal transmission effect on severity. J Med Genet 29 : 841-846
11. Fernandez JLR, Geiger B, Salomon D, Sabanay I, Zoeller M, Ben-Ze'ev A (1992) Suppression of tumorigenicity in transformed cells after transfection with Vinculin cDNA. J Cell Biol 119 : 427-438
12. Glueck U, Kwiatkowski D, Ben-Ze'ev A (1993) Suppression of tumorigenicity in simian virus 40 transformed 3T3 cells transfected with α-actinin cDNA. Proc Natl Acad Sci USA 90: 383-387
13. Irving RM, Moffat DA, Hardy DG, Barton DE, Xuereb JH, Maher ER (1994) Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma. Hum Mol Genet 3 : 347-350
14. Jacoby LB, MacCollin M, Louis DN, Mohoney T, Rubio M-P, Pulaski K, Trofatter JA, Kley N, Seizinger B, Ramesh V, Gusella JF (1994) Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet 3 : 413-419
15. Lekanne Deprez RH, Bianchi AB, Groen NA, Seizinger BR, Hagemeijer, vanDrunen E, Bootsma D, Koper JW, Avezaat CJJ, Kley N, Zwarthoff EC (1994) Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas. Am J Hum Genet 54 : 1022-1029
16. MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio M-P, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R, Parry DM, Gusella JF (1994) Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet 55 : 314-320
17. Marineau C, Baron C, Delattre O, Zucman J, Thomas G, Rouleau GA (1993) Dinucleotide repeat polymorphism at the D22S268 locus. Hum Mol Genet 2 : 336
18. Mérel P, Hoang-Xuan K, Sanson M, Bijlsma E, Rouleau G, Laurent-Puig P, Pulst S, Baser M, Lenoir G, Sterkers JM, Philippon J, Resche F, Mautner VF, Fischer G, Hulsebos T, Aunas A, Delattre O, Thomas G (1995) Screening for germ-line mutations in the NF2 gene. Genes Chromosomes Cancer 12 : 117-127
19. Muellauer L, Fujita H, Ishizaki A, Kuzumaki N (1993) Tumorsuppressive function of mutated gelsolin in ras-transformed cells. Oncogene 8 : 2531-2536
20. Papi L, De Vitis LR, Vitelli F, Ammannati F, Mennonna P, Montali E, Bigozzi U (1995) Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas. Hum Genet 95 : 347-351
21. Peyrard M, Fransson I, Xie Y, Han F, Ruttledge M, Swahn S, Collins JE, Dunham I, Collins VP, Dumanski JP (1994) Characterization of a new member of the human β-adaptin gene family from chromosome 22q12, a candidate meningioma agne. Hum Mol Genet 3 : 1393-1399
22. Prasad GL, Fulder RA, Cooper HL (1993) Expression of transduced tropomyosin 1 cDNA suppresses neoplastic growth of cells transformed by the ras oncogene. Proc Natl Acad Sci USA 90 : 7039-7043
23. Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, Martuza RL, Supemeau DW, Conneally PM, Gusella JF (1987) Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 329 : 246-248
24. Rouleau GA, Seizinger BR, Wertelecki W, Haines JL, Superneau DW, Martuza RL, Gusella JF (1990) Flanking markers bracket the neurofibromatosis type 2 gene on chromosome 22. Am J Hum Genet 46 : 323-328
25. Rouleau GA, Mérel P, Lutchman M, Sanson M, Zuchman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, Pulst SM, Lenoir G, Bijlsma E, Fashold R, Dumanski J, Jong P de, Parry D, Roswell E, Aurias A, Delattre O, Thomas G (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363 : 515-521
26. Russel DS, Rubinstein LJ (1989) Tumours of the meninges and related tissues. In: Russel DS, Rubinstein LJ (eds) Pathology of tumours of the nervous system. 5th edn. Arnold. London, pp 449-532
27. Ruttledge MH, Narod SA, Dumanski JP, Parry DM, Eldridge R, Wertelecki W, Parboosingh J, Faucher M-C, Lenoir GM, Collins VP, Nordenskjold M, Rouleau GA (1993) Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers. Neurology 43 : 1753-1760
28. Ruttledge MH, Xie Y-G, Han F-Y, Peyrard M, Collins P, Nordenskjold M, Dumanski JP (1994a) Deletions on chromosome 22 in sporadic meningioma. Genes Chromosomes Cancer 10: 122-130
29. Ruttledge MH, Sarrazin J, Rangaratnam S, Phelan CM, Twist E, Mérel P, Delattre O, Thomas G, Nordenskjold M, Collins VP, Dumanski JP, Rouleau GA (1994b) Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. Nature Gene 6 : 180-184
30. Sainz J, Figueroa K, Baser ME, Mautrier V-F, Pulst S-M (1995) High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons. Hum Mol Genet 4 : 137-139
31. Schneider G, Lutz S, Henn W, Zang KD, Blin N (1992) Search for putative tumor suppressor gene in meningioma: significance of chromosome 22. Hum Genet 88 : 579-582
32. Seizinger BR, De La Monte S, Atkins SL, Gusella JF, Martuza RL (1987) Molecular genetic approach to human meningioma: loss of genes on chromosome 22. Proc Natl Acad Sci USA 84 : 5419-5423
33. Sieb JP, Pulst S-M, Buch A (1992) Familial CNS tumors. J Neurol 239 : 343-344
34. Talerico M, Berget SM (1990) Effect of 5′ splice site mutations on splicing of the preceding intron. Mol Cell Biol 10 : 6299-6305
35. Tikoo A, Varga M, Ramesh V, Gusella J, Maruta H (1994) An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin). J Biol Chem 269 : 23387-23390
36. Trofatter JA, MacCollin MM, Rutter JL, Murrel 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
37. Twist EC, Ruttledge MH, Rousseau M, Sanson M, Papi L, Mérel P, Delattre O, Thomas G, Rouleau GA (1994) The neurofibromatosis type 2 gene is inactivated in schwannomas. Hum Mol Genet 3 : 147-151
38. Wellenreuther R, Kraus JA, Lenartz D, Menon AG, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD, Deimling A von (1995) Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. Am J Pathol 146 : 827-832
39. Wolff RK, Frazer KA, Jackler RK, Lanser MJ, Pitts LH, Cox DR (1992) Analysis of chromosome 22 deletions in neurofibromatosis type 2- related tumors. Am J Hum Genet 51 : 478-485