Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection

Journal of Molecular Medicine

Volumn 81, Issue 7, 2003, Pages 443-451

  Mantripragada, Kiran K ^a   Buckley, Patrick G ^a   Jarbo, Caroline ^a   Menzel, Uwe ^a   Dumanski, Jan P ^a  

^a UPPSALA UNIVERSITY   (Sweden)

Author keywords

Array CGH; Comparative genomic hybridization; Deletion amplification detection methodology; Genomic microarray analysis; Neurofibromatosis type 2; NF2 tumor suppressor gene

Indexed keywords

DNA; MERLIN; NEUROFIBROMIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 22; CHROMOSOME 22Q; CODON; COMPARATIVE GENOMIC HYBRIDIZATION; COSMID; DNA MICROARRAY; FAMILIAL CANCER; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETICS; HUMAN; METHODOLOGY; NEUROFIBROMATOSIS; NF2 GENE; NUCLEIC ACID HYBRIDIZATION; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; TUMOR SUPPRESSOR GENE;

BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 22; CODON; COSMIDS; GENE DELETION; GENES, NEUROFIBROMATOSIS 2; HUMANS; NEUROFIBROMATOSIS 2; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0041867866     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-003-0458-3     Document Type: Article

References (24)

1. Kanter WR, Eldridge R, Fabricant R, Allen JC, Koerber T (1980) Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology 30:851-859
2. Martuza RL, Eldridge R (1988) Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). N Engl J Med 318:684-688
3. Evans DGR, Huson M, Donnai D, Neary W, Blair V, Newton V, Harris R (1992) A clinical study of type 2 neurofibromatosis. Q J Med 84:603-618
4. Evans DGR, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R (1992) 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 29:841-846
5. 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
6. Rouleau GA, Merel P, Lutchman M, Sanson M, Zuckman J, Marineau C, Hoang- Xuan K, Demczuk S, Desmase C, Plougastel B, Pulst S, Lenoir G, Bijlsma E, Fashold R, Dumanski JP, DeJong P, Parry D, Eldridge R, Aurias A, Delattre O, Thomas G (1993) Alteration of a new gene encoding a putative membrane organizing protein causes neurofibromatosis type 2. Nature 363:515-521
7. Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry D, Eldridge R, Kley N, Menon AG, Pulaski K, Haase VH, Ambrose CM, Munroe D, Bove C, Haines J, Martuza R, MacDonald ME, Seizinger B, Short MP, Buckler A, Gusella JF (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor supressor. Cell 72:791-800
8. Zucman-Rossi J, Legoix P, Der Sarkissian H, Cheret G, Sor F, Bernardi A, Cazes L, Giraud S, Ollagnon E, Lenoir G, Thomas G (1998) NF2 gene in neurofibromatosis type 2 patients. Hum Mol Genet 7:2095-2101
9. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, Seroussi E, et al (1999) The DNA sequence of human chromosome 22. Nature 402:489-495
10. MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio MP, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R, et al (1994) Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet 55:314-320
11. Evans DGR, 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
12. Merel P, Hoang-Xuan K, Sanson M, Bijlsma E, Rouleau G, Laurent-Puig P, Pulst S, Baser M, Lenoir G, Sterkers JM, et al (1995) Screening for germ-line mutations in the NF2 gene. Genes Chromosomes Cancer 12:117-127
13. Kluwe L, Bayer S, Baser ME, Hazim W, Haase W, Funsterer C, Mautner VF (1996) Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. Hum Genet 98:534-538 (erratum 99:292)
14. Parry DM, MacCollin MM, Kaiser KM, Pulaski K, Nicholson HS, Bolesta M, Eldridge R, Gusella JF (1996) Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet 59:529-539
15. 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 (1996) Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet 59:331-342
16. Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Dohner H, Cremer T, Lichter P (1997) Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 20:399-407
17. Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG (1998) High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211
18. 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 (2001) High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet 10:271-282
19. Buckley P, Mantripragada K, Benetkiewicz M, Tapia-Páez I, Diaz de Ståhl T, Rosenquist M, Ali H, Jarbo C, de Bustos C, Hirvelä C, Sinder Wilén B, Fransson I, Thyr C, Johnsson B-I, Bruder C, Menzel U, Hergersberg M, Mandahl N Blennow E, Wedell A, Beare D, Collins J, Dunham I, Albertson D, Pinkel D, Bastian B, Faruqi A, Lasken R, Ichimura K, Collins V, Dumanski J (2002) A fullcoverage high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum Mol Genet 11:3221-3229
20. Xie Y-G, Han F-Y, Peyrard M, Ruttledge MH, Fransson I, DeJong P, Collins J, Dunham I, Nordenskjöld M, Dumanski JP (1993) Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12. Hum Mol Genet 2:1361-1368
21. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor
22. Bruder CE, Ichimura K, Blennow E, Ikeuchi T, Yamaguchi T, Yuasa Y, Collins VP, Dumanski JP (1999) Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible localization of a neurofibromatosis type 2 modifier gene? Genes Chromosomes Cancer 25:184-190
23. Armour JA, Barton DE, Cockburu DJ, Taylor GR (2002) The detection of large deletions or duplications in genomic DNA. Hum Mutat 20:325-337
24. Albertson D, Ylstra B, Segraves R, Collins C, Dairkee S, Kowbel D, Kuo W-L, Gray J, Pinkel D (2000) Quantitative mapping of amplicon structure by array CGH identifies vitamin D-24 hydroxylase (CYP24) as a candidate oncogene. Nat Genet 25:144-146