Molecular characterization of germline NF2 gene rearrangements

Genomics

Volumn 65, Issue 1, 2000, Pages 62-66

  Legoix, Patricia ^a   Sarkissian, Hera Der ^a   Cazes, Lucien ^a   Giraud, Sophie ^b   Sor, Frederic ^c   Rouleau, Guy A ^d   Lenoir, Gilbert ^b   Thomas, Gilles ^a   Zucman Rossi, Jessica ^a  

^a FONDATION JEAN DAUSSET CEPH   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

^c CNRS   (France)

^d MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANCER SUSCEPTIBILITY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE REARRANGEMENT; HUMAN; NERVOUS SYSTEM TUMOR; NEUROFIBROMATOSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0034176602     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.2000.6139     Document Type: Article

References (20)

1. Arai E., Ikeuchi T., Nakamura Y. Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2). Hum. Mol. Genet. 3:1994;937-939.
2. Collins J. E., Cole C. G., Smink L. J., Garrett C. L., Leversha M. A., Soderlund C. A., Maslen G. L., Everett L. A., Rice K. M., Coffey A. J. A high-density YAC contig map of human chromosome 22. Nature. 377:1995;367-379.
3. Desmaze C., Prieur M., Amblard F., Aikem M., LeDeist F., Demczuk S., Zucman J., Plougastel B., Delattre O., Croquette M. F. Physical mapping by FISH of the DiGeorge critical region (DGCR): Involvement of the region in familial cases. Am. J. Hum. Genet. 53:1993;1239-1249.
4. Evans D. G., Trueman L., Wallace A., Collins S., Strachan T. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations. J. Med. Genet. 35:1998;450-455.
5. Evans D. G., Wallace A. J., Wu C. L., Trueman L., Ramsden R. T. Somatic mosaicism: A common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. Am. J. Hum. Genet. 63:1998b;727-736.
6. Gutmann D. H., Aylsworth A., Carey J. C., Korf B., Marks J., Pyeritz R. E., Rubenstein A., Viskochil D. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. J. Am. Med. Assoc. 278:1997;51-57.
7. Kluwe L., Mautner V. F. Mosaicism in sporadic neurofibromatosis 2 patients. Hum. Mol. Genet. 7:1998;2051-2055.
8. Legoix P., Legrand M-F., Ollagnon E., Lenoir G., Thomas G., Zucman-Rossi J. Characterisation of 16 polymorphic markers in the NF2 gene: Application to hemizygosity detection. Hum. Mutat. 13:1999;290-293.
9. Lehrman M. A., Schneider W. J., Sudhof T. C., Brown M. S., Goldstein J. L., Russell D. W. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science. 227:1985;140-146.
10. Ottolenghi S., Giglioni B. The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat. Nature. 300:1982;770-771.
11. Parry D. M., MacCollin M. M., Kaiser-Kupfer M. I., Pulaski K., Nicholson H. S., Bolesta M., Eldridge R., Gusella J. F. Germ-line mutations in the neurofibromatosis 2 gene: Correlations with disease severity and retinal abnormalities. Am. J. Hum. Genet. 59:1996;529-539.
12. Rouleau G. A., Merel P., Lutchman M., Sanson M., Zucman J., Marineau C., Hoang-Xuan K., Demczuk S., Desmaze C., Plougastel B., Pulst S., Lenoir G., Bijlsma E., Fashold R., Dumanski J., De Jong P., Parry D., Eldridge R., Aurias A., Delattre O., Thomas G. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature. 363:1993;515-521.
13. Ruttledge M. H., Andermann A. A., Phelan C. M., Claudio J. O., Han F. Y., Chretien N., Rangaratnam S., MacCollin M., Short P., Parry D., Michels V., Riccardi V. M., Weksberg R., Kitamura K., Bradburn J. M., Hall B. D., Propping P., Rouleau G. A. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am. J. Hum. Genet. 59:1996;331-342.
14. Sanson M., Marineau C., Desmaze C., Lutchman M., Ruttledge M., Baron C., Narod S., Delattre O., Lenoir G., Thomas G. Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus. Hum. Mol. Genet. 2:1993;1215-1220.
15. Schiff C., Milili M., Zucman-Rossi J., Djabali M., Fougereau M. Composite exon structure of an unusual Ig lambda-like gene located at human 22q11 position. Mamm. Genome. 7:1996;598-602.
16. Shen L., Wu L. C., Sanlioglu S., Chen R., Mendoza A. R., Dangel A. W., Carroll M. C., Zipf W. B., Yu C. Y. Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. J. Biol. Chem. 269:1994;8466-8476.
17. Stoppa-Lyonnet D., Carter P. E., Meo T., Tosi M. Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc. Natl. Acad. Sci. USA. 87:1990;1551-1555.
18. Trofatter J. A., MacCollin M. M., Rutter J. L., Murrell J. R., Duyao M. P., Parry D. M., Eldridge R., Kley N., Menon A. G., Pulaski K. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell. 75:1993;826.
19. Watson C. J., Gaunt L., Evans G., Patel K., Harris R., Strachan T. A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus. Hum. Mol. Genet. 2:1993;701-704.
20. Zucman-Rossi J., Legoix P., Der Sarkissian H., Cheret G., Sor F., Bernardi A., Cazes L., Giraud S., Ollagnon E., Lenoir G., Thomas G. NF2 gene in neurofibromatosis type 2 patients. Hum. Mol. Genet. 7:1998;2095-2101.