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2008 | 49 | 3 |

Tytuł artykułu

Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2

Warianty tytułu

Języki publikacji

EN

Abstrakty

EN
Point mutation and loss of heterozygosity (LOH) analyses were performed in 12 Polish patients with a classic symptom of NF2 - bilateral vestibular schwannomas (BVS). In 5 patients (41.7%), germline mutations were found in the NF2 gene: 2 previously reported substitutions (c.592C>T and c.52C>T) and 3 novel mutations (c,1001_1002insG, c,1029_1030insCC, c.774_778dupGAATG). In addition, LOH analysis of 30 tumour samples from 10 patients revealed a molecular basis of NF2 in 3 patients (25%) that did not have any germline mutation. The molecular defects in sporadic cases of NF2 are still being discussed.

Słowa kluczowe

Wydawca

-

Rocznik

Tom

49

Numer

3

Opis fizyczny

p.297-300,ref.

Twórcy

  • Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
autor
  • Cell Biology Department, Cancer Centre and Institute of Oncology, Warsaw, Poland
autor
  • Department of Neurosurgery, Military Institute of the Health Services, Warsaw Poland
  • Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland

Bibliografia

  • Baser ME, Friedman JM, Wallace AJ, Ramsden RT, Joe H, Evans DG; 2002. Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology 59: 1759-1765.
  • Brault E, Gautreau A, Lamarine M, Callebaut I, Thomas G, Goutebroze L, 2001. Normal membrane localization and actin association of the NF2 tumor suppressor protein are dependent on folding of its N-terminal domain. J Cell Sci 114: 1901-1912.
  • Evans DG, Trueman L, Wallace A, Collins S, Strachan T; 1998. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. J Med Genet 35: 450-455.
  • Gronholm M, Teesalu T, Tyynelä J, Piltti K, Böhling T, Wartiovaara K, et al. 1999. Homotypic and heterotypic interaction of the neurofibromatosis 2 tumor suppressor protein merlin and the ERM protein ezrin. J Cell Sci 112: 895-904.
  • Jacoby LB, MacCollin M, Louis DN, Mohney T, Rubio MP, Pulaski K, et al. 1994. Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet 3: 413-419.
  • Jannatipour M, Dion P, Khan S, Jindal H, Fan X, Laganičre J, et al. 2001. Schwannomin isoform-1 interacts with syntenin via PDZ domains. J Biol Chem 276: 33093-33100.
  • Kluwe L, Mautner V, Heinrich B, Dezube R, Jacoby LB, Friedrich RE, MacCollin M, 2003. Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 40: 109-114.
  • Kluwe L, Bayer S, Baser ME, Hazim W, Haase W, Fünsterer C, Mautner VF, 1996. Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. Hum Genet 98: 534-538.
  • Kluwe L, Nygren AO, Errami A, Heinrich B, Matthies C, Tatagiba M, Mautner V, 2005. Screening for large mutations of the NF2 gene. Genes Chromosomes Cancer 42: 384-391.
  • Mautner VF, Lindenau M, Baser ME, Hazim W, Tatagiba M, Haase W, et al. 1996. The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery 38: 880-885.
  • Merel P, Hoang-Xuan K, Sanson M, Bijlsma E, Rouleau G, Laurent-Puig P, et al. 1995. Screening for germ-line mutations in the NF2 gene. Genes Chromosomes. Cancer 12: 117-127.
  • Morrison H, Sherman LS, Legg J, Banine F, Isacke C, Haipek CA, et al. 2001. The NF2 tumor suppressor gene product, merlin, mediates contact inhibition of growth through interactions with CD44. Genes Dev 15: 968-980.
  • 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.
  • Parry DM, MacCollin MM, Kaiser-Kupfer MI, Pulaski K, Nicholson HS, Bolesta M, et al. 1996. Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 59: 529-539.
  • Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, et al. 1993. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363: 515-521.
  • Ruttledge MH, Andermann AA, Phelan CM, Claudio JO, Han FY, Chretien N, et al. 1996. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 59: 331-342.
  • Ruttledge MH, Sarrazin J, Rangaratnam S, Phelan CM, Twist E, Merel P, et al. 1994. Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas. Nat Genet 6: 180-184.
  • Sherman LS, Gutmann DH, 2001. Merlin: hanging tumor suppression on the Rac. Trends Cell Biol 11: 442-444.
  • Sherman L, Xu HM, Geist RT, Saporito-Irwin S, Howells N, Ponta H, et al. 1997. Interdomain binding mediates tumor growth suppression by the NF2 gene product. Oncogene 15: 2505-2509.
  • Shimizu T, Seto A, Maita N, Hamada K, Tsukita S, Tsukita S, Hakoshima T, 2002. Structural basis for neurofibromatosis type 2. Crystal structure of the merlin FERM domain. J Biol Chem 277: 10332-10336.
  • van Tilborg AA, Morolli B, Giphart-Gassler M, de Vries A, van Geenen DA, Lurkin I, et al. 2006. Lack of genetic and epigenetic changes in meningiomas without NF2 loss. J Pathol 208: 564-573.

Typ dokumentu

Bibliografia

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Identyfikator YADDA

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