Detection and characterization of NF1 microdeletions by custom high resolution array CGH

Journal of Molecular Diagnostics

Volumn 11, Issue 6, 2009, Pages 524-529

  Pasmant, Eric ^a,b   Sabbagh, Audrey ^a,b   Masliah Planchon, Julien ^b   Haddad, Véronique ^b   Hamel, Marie José ^b   Laurendeau, Ingrid ^a   Soulier, Jean ^c   Parfait, Béatrice ^a,b   Wolkenstein, Pierre ^d   Bièche, Ivan ^a,b   Vidaud, Michel ^a,b   Vidaud, Dominique ^a,b  

^a INSERM   (France)

^b BEAUJON HOSPITAL   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d HENRI MONDOR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CHROMOSOME 17; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; GENE; GENE DELETION; GENE REARRANGEMENT; GENOTYPE; HUMAN; NEUROFIBROMATOSIS; NEUROFIBROMATOSIS 1 GENE; NUCLEOTIDE SEQUENCE; OLIGONUCLEOTIDE PROBE; PHENOTYPE; POINT MUTATION; REAL TIME POLYMERASE CHAIN REACTION;

EID: 70350452927     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2009.090064     Document Type: Article

References (19)

1. Carey JC, Baty BJ, Johnson JP, Morrison T, Skolnick M, Kivlin J: The genetic aspects of neurofibromatosis. Ann NY Acad Sci 1986, 486:45-56
2. Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007, 44:81-88 (Pubitemid 46318464)
3. Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns 2007, 16:387-407 (Pubitemid 47305510)
4. Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner VF: Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 2004, 23:111-116 (Pubitemid 38200601)
5. Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H: Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Am J Hum Genet 2007, 81:1201-1220 (Pubitemid 350211450)
6. Raedt TD, Stephens M, Heyns I, Brems H, Thijs D, Messiaen L, Stephens K, Lazaro C, Wimmer K, Kehrer-Sawatzki H, Vidaud D, Kluwe L, Marynen P, Legius E: Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet 2006, 38:1419-1423 (Pubitemid 44837564)
7. Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF: High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet 2004, 75:410-423 (Pubitemid 39095817)
8. Venturin M, Guarnieri P, Natacci F, Stabile M, Tenconi R, Clementi M, Hernandez C, Thompson P, Upadhyaya M, Larizza L, Riva P: Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. J Med Genet 2004, 41:35-41 (Pubitemid 38125685)
9. Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, Cordeiro I, Ponder M, Ponder BA, Krawczak M, Cooper DN: Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet 1998, 102:591-597 (Pubitemid 28282590)
10. Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L: NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 2000, 66:100-109 (Pubitemid 30481472)
11. De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E: Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 2003, 72:1288-1292 (Pubitemid 36530016)
12. Kehrer-Sawatzki H, Tinschert S, Jenne DE: Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. J Med Genet 2003, 40:e116
13. Pasmant E, de Saint-Trivier A, Laurendeau I, Dieux-Coeslier A, Parfait B, Vidaud M, Vidaud D, Bièche I: Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient. Eur J Hum Genet 2008, 16:1459-1466
14. Venturin M, Gervasini C, Orzan F, Bentivegna A, Corrado L, Colapietro P, Friso A, Tenconi R, Upadhyaya M, Larizza L, Riva P: Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. Hum Genet 2004, 115:69-80 (Pubitemid 38787218)
15. De Luca A, Bottillo I, Dasdia MC, Morella A, Lanari V, Bernardini L, Divona L, Giustini S, Sinibaldi L, Novelli A, Torrente I, Schirinzi A, Dallapiccola B: Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification. J Med Genet 2007, 44:800-808 (Pubitemid 350275056)
16. Wimmer K, Yao S, Claes K, Kehrer-Sawatzki H, Tinschert S, De Raedt T, Legius E, Callens T, Beiglböck H, Maertens O, Messiaen L: Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer 2006, 45:265-276 (Pubitemid 43238477)
17. Upadhyaya M, Spurlock G, Monem B, Thomas N, Friedrich RE, Kluwe L, Mautner V: Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum Mutat 2008, 29:74-82
18. Mantripragada KK, Thuresson AC, Piotrowski A, Díaz de Stahl T, Menzel U, Grigelionis G, Ferner RE, Griffiths S, Bolund L, Mautner V, Nordling M, Legius E, Vetrie D, Dahl N, Messiaen L, Upadhyaya M, Bruder CE, Dumanski JP: Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J Med Genet 2006, 43:28-38 (Pubitemid 43099992)
19. Shen MH, Mantripragada K, Dumanski JP, Frayling I, Upadhyaya M: Detection of copy number changes at the NF1 locus with improved high-resolution array CGH. Clin Genet 2007, 72:238-244 (Pubitemid 47300027)