A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene

Human Genetics

Volumn 104, Issue 5, 1999, Pages 418-424

  Bruder, Carl E G ^a   Ichimura, Koichi ^b,d   Tingby, Ola ^d   Hirakawa, Kimiyoshi ^b   Komatsuzaki, Atsushi ^b   Tamura, Akira ^c   Yuasa, Yasuhito ^b   Collins, V Peter ^d   Dumanski, Jan P ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 22Q; CRANIAL NERVE; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NEURILEMOMA; PRIORITY JOURNAL; SPINAL NERVE; TUMOR SUPPRESSOR GENE;

ADOLESCENT; ADULT; AGED; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; DNA; FEMALE; GENES, NEUROFIBROMATOSIS 2; GENETIC MARKERS; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; NEURILEMMOMA; NEUROFIBROMATOSIS 1; NEUROFIBROMATOSIS 2; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0033064584     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050978     Document Type: Article

References (27)

1. Arai E, Ikeuchi T, Nakamura Y (1994) Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2). Hum Mol Genet 3:937-939
2. Bijlsma EK, Brouwer-Mladin R, Bosch DA, Westerveld A, Hulsebos TJM (1992) Molecular characterization of chromosome 22 in schwannomas. Genes Chromosom Cancer 5:201-205
3. Bruder CEG, Ichimura K, Blennow E, Ikeuchi T, Yamaguchi T, Yuasa Y, Collins VP, Dumanski JP (1999) Severe phenotype of the neurofibromatosis type 2 in a patient with a 7.4 Mb constitutional deletion on chromosome 22; possible localization of a neurofibromatosis type 2 modifier gene? Genes Chromosom Cancer (in press)
4. Evans DGR, Huson M, Donnai D, Neary W, Blair V, Newton V, Harris R (1992a) A clinical study of type 2 neurofibromatosis. Q J Med 84:603-618
5. Evans DGR, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R (1992b) 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
6. Gutmann DH, Geist RT, Xu Hm, Kim JS, Saporito-Irwin S (1998) Defects in neurofibromatosis 2 protein function can arise at multiple levels. Hum Mol Genet 7:335-45
7. Huynh DP, Mautner V, Baser ME, Stavrou D, Pulst SM (1997) Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas. J Neuropathol Exp Neurol 56:382-90
8. Ichimura K, Schmidt EE, Goike HM, Collins VP (1996) Human glioblastomas with no alterations of the CDKN2A (p16INK4A, MTS1) and CDK4 genes have frequent mutations of the retinoblastoma gene. Oncogene 13:1065-1072
9. Jacoby LB, MacCollin M, Louis DN, Mohney T, Rubio MP, 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
10. Jacoby LB, Maccollin M, Barone R, Ramesh V, Gusella JF (1996) Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosom Cancer 17:45-55
11. Jacoby LB, Jones D, Davis K, Kronn D, Short MP, Gusella J, Maccollin M (1997) Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet 61:1293-1302
12. Maccollin M, Woodfin W, Kronn D, Short MP (1996) Schwannomatosis - a clinical and pathologic study. Neurology 46: 1072-1079
13. Martuza RL, Eldridge R (1988) Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). N Engl J Med 318:684-8
14. Parry DM, Eldridge R, Kaiser-Kupfer M, Bouzas EA, Pikus A, Patronas N (1994) Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 52:450-461
15. Parry DM, MacCollin MM, Kaiser KM, Pulaski K, Nicholson HS, Bolesta M, Eldridge R, Gusella JF (1996) Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 59:529-539
16. Purcell SM, Dixon SL (1989) Schwannomatosis. An unusual variant of neurofibromatosis or a distinct clinical entity? Arch Dermatol 125:390-393
17. Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, Martuza RL, Superneau DW, Conneally PM, Gusella JF (1987) Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 329:246-248
18. Rouleau GA, Merel P, Lutchman M, Sanson M, Zuckman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmase C, Plougastel B, Pulst S, Lenoir G, Bijlsma E, Fashold R, Dumanski JP, DeJong P, Parry D, Eldridge R, Aurias A, Delattre O, Thomas G (1993) Alteration of a new gene encoding a putative membrane organizing protein causes neurofibromatosis type 2. Nature 363:515-521
19. Russel DS, Rubinstein LJ (1989) Tumors of the cranial, spinal and priheral nerve sheaths. Pathology of tumors of the nervous system. Arnold, London, pp 533-589
20. Ruttledge MH, Sarrazin J, Rangaratnam S, Phelan CM, Twist E, Nordenskjöld M, Collins VP, Dumanski JP, Rouleau G (1994a) Evidence for the complete inactivation of the neurofibromatosis type 2 gene in the majority of sporadic meningiomas. Nat Genet 6:180-184
21. Ruttledge MH, Xie Y-G, Han F-Y, Peyrard M, Collins VP, Nordenskjöld M, Dumanski JP (1994b) Deletions on chromosome 22 in sporadic meningioma. Genes Chromosom Cancer 10:122-130
22. Ruttledge MH, Andermann AA, Phelan CM, Claudio JO, Han FY, Chretien N, Rangaratnam S, MacCollin M, Short P, Parry D, Michels V, Riccardi VM, Weksberg R, Kitamura K, Bradburn JM, Hall BD, Propping P, Rouleau GA (1996) Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 59: 331-42
23. Sanson M, Marineau C, Desmaze C, Luthman M, Ruttledge M, Baron C, Narod S, Delattre O, Lenoir G, Thomas G, Aurias A, Rouleau G (1993) Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus. Hum Mol Genet 2:1215-1220
24. Seizinger BR, Martuza RL, Gusella JF (1986) Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 322:644-647
25. Staden R (1994) The Staden package. Methods Mol Biol 25: 9-170
26. Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry D, Eldridge R, Kley N, Menon AG, Pulaski K, Haase VH, Ambrose CM, Munroe D, Bove C, Haines J, Martuza R, MacDonald ME, Seizinger B, Short MP, Buckler A, Gusella JF (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor supressor. Cell 72:791-800
27. Watson CJ, Gaunt L, Evans G, Patel K, Harris R, Strachan T (1993) A disease associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukemia inhibitory factor locus. Hum Mol Genet 2:701-704