Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction

Journal of Molecular Diagnostics

Volumn 7, Issue 1, 2005, Pages 97-104

  Diebold, Ruth ^a   Bartelt Kirbach, Britta ^a   Evans, D Gareth ^b   Kaufmann, Dieter ^a   Hanemann, C Oliver ^a  

^a UNIVERSITY OF ULM   (Germany)

^b ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; TUMOR SUPPRESSOR PROTEIN;

ALLELE; ARTICLE; CALCULATION; CANCER CELL; CANCER SCREENING; CELL CULTURE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; EXON; FIBROBLAST; FLUORESCENCE ANALYSIS; GENE AMPLIFICATION; GENE DELETION; GENE DOSAGE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; NEURILEMOMA; NEUROFIBROMATOSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PROMOTER REGION; PROTEIN ANALYSIS; RELIABILITY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; VALIDATION PROCESS;

EID: 14644443527     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1525-1578(10)60014-1     Document Type: Article

References (28)

1. Evans DG, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R: 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 1992, 29:841-846
2. 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, Bijlsmaa E, Fashold R, Dumanski J, de Jong P, Parry D, Eldrige R, Aurias A, Delattre O, Thomas G: Alteration in a new gene encoding a putative membrane organizing protein causes neurofibromatosis type 2. Nature 1993, 363:515-521
3. Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K: A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993, 75:791-800
4. Seizinger BR, Martuza RL, Gusella JF: Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature 1986, 322: 644-647
5. Wolff RK, Frazer KA, Jackler RK, Lanser MJ, Pitts LH, Cox DR: Analysis of chromosome 22 deletions in neurofibromatosis type 2-related tumors. Am J Hum Genet 1992, 51:478-485
6. Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B: Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 1993, 363:515-521
7. Knudson Jr AG: Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971, 68:820-823
8. 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: Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 1996, 59:331-342
9. Mohyuddin A, Baser ME, Watson C, Purcell S, Ramsden RT, Heiberg A, Wallace AJ, Evans DG: Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. J Med Genet 2003, 40:459-463
10. MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio MP, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R: Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet 1994, 55:314-320
11. Evans DG, 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 1998, 35:450-455
12. Jacoby LB, MacCollin M, Louis DN, Mohney T, Rubio MP, Pulaski K, Trofatter JA, Kley N, Seizinger B, Ramesh V: Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet 1994, 3:413-419
13. Evans DG, Wallace AJ, Wu CL, Trueman L, Ramsden RT, Strachan T: Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. Am J Hum Genet 1998, 63:727-736
14. Mohyuddin A, Neary WJ, Wallace A, Wu CL, Purcell S, Reid H, Ramsden RT, Read A, Black G, Evans DG: Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas. J Med Genet 2002, 39:315-322
15. Merel P, Khe HX, Sanson M, Bijlsma E, Rouleau G, Laurent-Puig P, Pulst S, Baser M, Lenoir G, Sterkers JM: Screening for germ-line mutations in the NF2 gene. Genes 1995, 2:117-127
16. Merel P, Haong-Xuan K, Sanson M, Moreau-Aubry A, Bijlsma EK, Lazaro C, Moisan JP, Resche F, Nishisho I, Estivill X: Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas. Genes 1995, 3:211-216
17. Bruder CE, Hirvela C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Moller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlen S, Blennow E, Albertson DG, Pinkel D, Dumanski JP: High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Vol Genet 2001, 10:271-282
18. Heinmoller E, Liu Q, Sun Y, Schlake G, Hill KA, Weiss LM, Sommer SS: Toward efficient analysis of mutations in single cells from ethanol-fixed, paraffin-embedded, and immunohistochemically stained tissues. Lab Invest 2002, 82:443-453
19. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16:1215
20. Morgan NV, Tipping AJ, Joenje H, Mathew CG: High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am J Hum Genet 1999, 65:1330-1341
21. Rosenbaum C, Kluwe L, Mautner VF, Friedrich RE, Mueller HW, Hanemann CO: Isolation and characterization of Schwann cells from neurofibromatosis type 2 patients. Neurobiol Dis 1998, 5:55-64
22. Utermark T, Kaempchen K, Hanemann CO: Pathological adhesion of primary human schwannoma cells is dependent on altered expression of integrins. Brain Pathol 2003, 13:352-363
23. Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987, 162:156-159
24. Legoix P, Legrand MF, Ollagnon E, Lenoir G, Thomas G, Zucman-Rossi J: Characterisation of 16 polymorphic markers in the NF2 gene: application to hemizygosity detection. Hum Mutat 1999, 13:290-293
25. Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, Saurin JC, Puisieux A, Olschwang S, Frebourg T: Detection of axon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res 2000, 60:2760-2763
26. Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, Puisieux A, Frebourg T: MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 2002, 62: 848-853
27. Yau SC, Bobrow M, Mathew CG, Abbs SJ: Accurate diagnosis of carriers of deletions and duplications in Duchenne/Backer muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996, 33: 550-558
28. Saugier-Veber P, Drouot N, Lefebvre S, Charbonnier F, Vial E, Munnich A, Frebourg T: Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method. J Med Genet 2001, 38:240-243