Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phonotypes

Human Genetics

Volumn 98, Issue 5, 1996, Pages 534-538

  Kluwe, Lan ^a   Bayer, Saskia ^a   Baser, Michael E ^b   Hazim, Wasim ^a   Haase, Wolfgang ^a   Fünsterer, Carsten ^c   Mautner, Victor F ^d  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Hamburg Othmarschen MRI Institute ^*  (United States)

^c Hamburg Othmarschen MRI Institute   (Germany)

^d Allgemeines Krankenhaus Eilbek   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DINUCLEOTIDE;

ARTICLE; AUTOSOMAL INHERITANCE; CODON; ENVIRONMENTAL FACTOR; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE; HUMAN; INTRACRANIAL TUMOR; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEURILEMOMA; NEUROFIBROMATOSIS; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SCHWANN CELL; SPINAL CORD TUMOR; STATISTICS; VESTIBULE;

DNA MUTATIONAL ANALYSIS; GENES, NEUROFIBROMATOSIS 2; GENOTYPE; GERM-LINE MUTATION; HUMANS; NEUROFIBROMATOSIS 2; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0029811044     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050255     Document Type: Article

References (30)

1. Baser ME, Mautner VF, Ragge NK, Nechiporuk A, Riccardi VM, Klein J, Sainz J, Pulst SM (1996a) Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations. Neurology (in press)
2. Baser ME, Ragge NK, Riccardi VM, Janus T, Gantz B, Pulst S (1996b) Phenotypic variability in monozygotic twins with neurofibromatosis 2. Am J Med Genet (in press)
3. Bianchi AB, Hara T, Ramesh V, Gao J, Klein Szanto AJ, Morin F, Menon AC, Trofatter JA, Gusella JF, Seizinger BR, Kley N (1994) Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumor types. Nat Genet 6:85-92
4. Bourn D, Carter SA, Mason S, Evans DGR, Strachan T (1994a) Germline mutations in the neurofibromatosis type 2 tumor suppressor gene. Hum Mol Genet 3 :813-816
5. Bourn D, Carter SA, Evans DGR, Goodship J, Coakham H, Strachan T (1994b) A mutation in the neurifibromatosis type 2 tumor suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 55 : 69-73
6. Bourn D, Mason S, Tekes S, Trueman LA, Carter SA, Evans DGR, Strachan T (1995) NF2 mutation characterization and genotype-phenotype correlations (abstract). Presented at NNFF International Consortium for the Molecular Biology of NF1 and NF2, Philadelphia, 13-15 July 1995
7. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
8. Evans DGR, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R (1992) A clinical study of type 2 neurofibromatosis. QJM 84:603-618
9. Irving RM, Moffat DA, Hardy DG, Barton DE, Xuereb JH, Maher ER (1994) Somatic NF2 gene mutations in familial and non-familial vestibular schwannomas. Hum Mol Genet 3:347-350
10. 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 3:413-19
11. Kluwe L, Mautner VF (1996) A missense mutation in the NF2 gene results in moderate and severe phenotypes of neurofibromatosis type 2. Hum Genet 97:224-227
12. Kluwe L, Pulst SM, Köppen J, Mautner VF (1995) A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2. Hum Genet 95:443-446
13. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
14. Lekanne Deprez RH, Bianchi AB, Groen NA, Seizinger BR, Hagemeijer A, Drunen E van, 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
15. MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio MP, 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
16. Mautner VF, Tatagiba M, Lindenau M, Fünsterer C, Pulst SM, Baser ME, Kluwe L, Zanella FE (1995) Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety (erratum appears in Am J Roentgenol 1996; 166:1231). Am J Roentgenol 165:951-955
17. Mautner VF, Baser ME, Kluwe L (1996) Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations. Hum Genet 98:203-206
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, Aurias A, Delattre O, Thomas G (1995) Screening for germ-line mutations in the NF2 gene. Genes Chromosom Cancer 12:117127
19. Padgett RA, Graboswki PJ, Konarsa MM, Seiler S, Sharp PA (1986) Splicing of messenger RNA precursors. Annu Rev Biochem 55: 1119-1150
20. Parry DM, Eldridge R, Kaiser-Kupfer MI, 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
21. Parry DM, MacCollin M, Kaiser-Kupfer M, Pulaski K, Nicholson HS, Eldridge R, Gusella J (1995) Correlations between genotype and phenotype in NF2 (abstract). Presented at NNFF International Consortium for the Molecular Biology of NF1 and NF2, Philadelphia, 13-15 July 1995
22. Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, Pulst SM, Lenoir G, Bijlsma E, Fahsold R, Dumanski J, Jong P de, Parry D, Eldridge R, Aurias A, Delattre O, Thomas G (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 363: 515-521
23. Rubio MP, Correa KM, Ramesh V, MacCollin MM, 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
24. Ruttledge MH, Sarrazin J, Rangaratnam S, Phelan CM, Twist E, Mérel P, Delattre O, Thomas G, Nordenskjöld 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
25. Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM (1994) Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet 3:885-891
26. Sainz J, Figueroa K, Baser ME, Mautner VF, Pulst SM (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
27. Scoles DR, Baser ME, Pulst SM (1996) A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. Neurology (in press)
28. 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, Buchler AJ, Gusella JF (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791-800
29. 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 3:47-51
30. Watson CJ, Gaunt L, Evans G, Harris R, Strachan T (1993) A germinal interstitial deletion maps the locus for type 2 neurofibromatosis to the interval between D22S56 and LIF (leukaemia inhibitory factor). Hum Mol Genet 2:701-704