Human Molecular Genetics, Vol 7, 2095-2101, Copyright © 1998 by Oxford University Press
J Zucman-Rossi, P Legoix, H Der Sarkissian, G Cheret, F Sor, A Bernardi, L Cazes, S Giraud, E Ollagnon, G Lenoir and G Thomas
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that
predisposes to nervous system tumors. The schwannomin (also termed merlin)
protein encoded by the NF2 gene shows a close relationship to the family of
cytoskeleton-to-membrane proteins linkers ERM (ezrin- radixin-moesin
proteins). Even though penetrance of the disease is >95% and no genetic
heterogeneity has been described, point mutations in the NF2 gene have been
observed in only 34-66% of the screened NF2 patients, depending on the
series. In order to generate tools that would enable an exhaustive
alteration screening for the NF2 gene, we have deduced its entire genomic
sequence. This knowledge has provided the delineation of a mutation
screening strategy which, when applied to a series of 19 NF2 patients, has
revealed a high recurrence of large deletions in the gene and has raised
the efficiency of mutation detection in NF2 patients to 84% of the cases in
this series. The remaining three patients who express two functional NF2
alleles are all sporadic cases, an observation compatible with the presence
of mosaicism for NF2 mutation.
ARTICLES
NF2 gene in neurofibromatosis type 2 patients
Laboratoire de genetique des tumeurs, INSERM U434 and CEPH/ Fondation Jean Dausset, 27 rue Juliette Dodu, 75010 Paris, France. zucman@cephb.fr
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  M E Baser, L Kuramoto, R Woods, H Joe, J M Friedman, A J Wallace, R T Ramsden, S Olschwang, E Bijlsma, M Kalamarides, et al. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2 J. Med. Genet., July 1, 2005; 42(7): 540 - 546. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Nunes and M. MacCollin Neurofibromatosis 2 in the Pediatric Population J Child Neurol, October 1, 2003; 18(10): 718 - 724. [Abstract] [PDF]
|
|
|
|
|
|
M E Baser, L Kuramoto, H Joe, J M Friedman, A J Wallace, R T Ramsden, and D G R Evans Genotype-phenotype correlations for cataracts in neurofibromatosis 2 J. Med. Genet., October 1, 2003; 40(10): 758 - 760. [Full Text] [PDF]
|
|
|
|
|
|
C Bovie, S T Holden, A Schroer, E Smith, D Trump, and F L Raymond Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2) J. Med. Genet., September 1, 2003; 40(9): 682 - 684. [Full Text] [PDF]
|
|
|
|
|
|
A Moyhuddin, M E Baser, C Watson, S Purcell, R T Ramsden, A Heiberg, A J Wallace, and D G R Evans Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring J. Med. Genet., June 1, 2003; 40(6): 459 - 463. [Full Text] [PDF]
|
|
|
|
|
|
L Kluwe, V Mautner, B Heinrich, R Dezube, L B Jacoby, R E Friedrich, and M MacCollin Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas J. Med. Genet., February 1, 2003; 40(2): 109 - 114. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. E. Baser, J. M. Friedman, A. J. Wallace, R. T. Ramsden, H. Joe, and D. G.R. Evans Evaluation of clinical diagnostic criteria for neurofibromatosis 2 Neurology, December 10, 2002; 59(11): 1759 - 1765. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Ruggieri and S. M. Huson The clinical and diagnostic implications mosaicism in the neurofibromatoses Neurology, June 12, 2001; 56(11): 1433 - 1443. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Lasota, J. F. Fetsch, A. Wozniak, B. Wasag, R. Sciot, and M. Miettinen The Neurofibromatosis Type 2 Gene Is Mutated in Perineurial Cell Tumors : A Molecular Genetic Study of Eight Cases Am. J. Pathol., April 1, 2001; 158(4): 1223 - 1229. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. E.G. Bruder, C. Hirvela, I. Tapia-Paez, I. Fransson, R. Segraves, G. Hamilton, X. X. Zhang, D. G. Evans, A. J. Wallace, M. E. Baser, et al. High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH Hum. Mol. Genet., February 1, 2001; 10(3): 271 - 282. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D G. R Evans, M Sainio, and M. E Baser Neurofibromatosis type 2 J. Med. Genet., December 1, 2000; 37(12): 897 - 904. [Abstract] [Full Text]
|
|
|
|
|
|
D G R EVANS, V NEWTON, W NEARY, M E BASER, A WALLACE, R MACLEOD, J P R JENKINS, J GILLESPIE, and R T RAMSDEN Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2) J. Med. Genet., December 1, 2000; 37(12): 944 - 947. [Full Text]
|
|
|
|
 |
|
 J. A. L. Armour, C. Sismani, P. C. Patsalis, and G. Cross Measurement of locus copy number by hybridisation with amplifiable probes Nucleic Acids Res., January 15, 2000; 28(2): 605 - 609. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. LÓPEZ-CORREA, J. ZUCMAN-ROSSI, H. BREMS, G. THOMAS, and E. LEGIUS NF2 gene deletion in a family with a mild phenotype J. Med. Genet., January 1, 2000; 37(1): 75 - 77. [Full Text]
|
|
|
|
 |
|
 K. Ueki, C. Wen-Bin, Y. Narita, A. Asai, and T. Kirino Tight Association of Loss of Merlin Expression with Loss of Heterozygosity at Chromosome 22q in Sporadic Meningiomas Cancer Res., December 1, 1999; 59(23): 5995 - 5998. [Abstract] [Full Text] [PDF]
|
|