A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

The Journal of Molecular Diagnostics - Tập 13 Số 2 - Trang 113-122 - 2011
M. Carmen Valero1,2, Yolanda Martín1,2, Elisabete Hernández-Imaz1,2, Alba Hernández1,2, Germán Melean1,2, Ana María Valero1,2, Francisco Javier Álvarez Rodríguez1,2, Dolores Tellerı́a1,2, Concepción Hernández-Chico1,2
1Molecular Genetics Unit, University Hospital Ramón y Cajal, Institute of Health Research (IRYCIS), Madrid
2the Center for Biomedical Research–Network of Rare Diseases (CIBERER), Madrid, Spain

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Huson, 1989, A genetic study of von Recklinghausen neurofibromatosis in South East Wales: prevalence, fitness, mutation rate, and effect of parental transmission on severity, J Med Genet, 26, 704, 10.1136/jmg.26.11.704

Huson, 1994, Neurofibromatosis: historical perspective, classification and diagnostic criteria, 1

Riccardi, 1992

Huson, 1988, Von Recklinghausen neurofibromatosis, Brain, 111, 1355, 10.1093/brain/111.6.1355

Cawthon, 1990, Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts, Genomics, 7, 555, 10.1016/0888-7543(90)90199-5

Viskochil, 1990, Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus, Cell, 62, 187, 10.1016/0092-8674(90)90252-A

Wallace, 1990, Type I neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients [Erratum appeared in Science 1990, 250:1749], Science, 249, 181, 10.1126/science.2134734

Viskochil, 1998, Gene structure and function, 39

Ballester, 1990, The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins, Cell, 63, 851, 10.1016/0092-8674(90)90151-4

Martin, 1990, The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21, Cell, 63, 843, 10.1016/0092-8674(90)90150-D

Xu, 1990, The catalytic domain of the neurofibromatosis type I gene product stimulates ras GTPase and complement IRA mutants of S. cerevisiae, Cell, 63, 835, 10.1016/0092-8674(90)90149-9

Colman, 1995, Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene, Nat Genet, 11, 90, 10.1038/ng0995-90

Messiaen, 2008, NF1 mutational spectrum, 63, 10.1159/000126545

Messiaen, 2000, Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects, Hum Mutat, 15, 541, 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N

Ars, 2000, Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1 [Erratum appeared in Hum Mol Genet 2000;9:659], Hum Mol Genet, 9, 237, 10.1093/hmg/9.2.237

Pros, 2008, Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations, Hum Mutat, 29, E173, 10.1002/humu.20826

Valero, 1994, Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE), Hum Mol Genet, 3, 639, 10.1093/hmg/3.4.639

Fahsold, 2000, Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain, Am J Hum Genet, 66, 790, 10.1086/302809

De Luca, 2003, NF1 gene analysis based on DHPLC, Hum Mutat, 21, 171, 10.1002/humu.9111

Griffiths, 2007, Molecular diagnosis of neurofibromatosis type 1: 2 years experience, Fam Cancer, 6, 21, 10.1007/s10689-006-9001-3

Upadhyaya, 2004, Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors, Hum Mutat, 23, 134, 10.1002/humu.10305

Wu, 1995, Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations, Am J Med Genet, 59, 528, 10.1002/ajmg.1320590427

Riva, 2000, NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes, Am J Hum Genet, 66, 100, 10.1086/302709

Shen, 2007, Detection of copy number changes at the NF1 locus with improved high resolution array CGH, Clin Genet, 72, 238, 10.1111/j.1399-0004.2007.00858.x

Pasmant, 2009, Detection and characterization of NF1 microdeletions by custom high resolution array CGH, J Mol Diagn, 11, 524, 10.2353/jmoldx.2009.090064

Wimmer, 2006, Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients, Genes Chromosomes Cancer, 45, 265, 10.1002/gcc.20289

De Luca, 2007, Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification, J Med Genet, 44, 800, 10.1136/jmg.2007.053785

Wimmer, 2007, Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption, Hum Mutat, 28, 599, 10.1002/humu.20493

Fang, 2001, Genotype analysis of the NF1 gene in the French Canadians from the Quebec population, Am J Med Genet, 104, 189, 10.1002/ajmg.10034

Xu, 1991, An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1), Nucleic Acids Res, 19, 3764, 10.1093/nar/19.13.3764

Lazaro, 1994, Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene, Hum Genet, 93, 351, 10.1007/BF00212039

Valero, 1996, Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling, J Med Genet, 33, 590, 10.1136/jmg.33.7.590

Lázaro, 1993, A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene, Hum Genet, 92, 429, 10.1007/BF01247353

Wimmer, 2000, Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients, Hum Genet, 106, 311, 10.1007/s004390000249

Han, 2001, Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene, Hum Genet, 109, 487, 10.1007/s004390100594

Den Dunnen, 2003, Mutation nomenclature, Curr Protoc Hum Genet, 10.1002/0471142905.hg0713s37

Kehrer-Sawatzki, 2004, 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, 75, 410, 10.1086/423624

Orzan, 2008, Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele, Neurogenetics, 9, 95, 10.1007/s10048-007-0115-z

Andreutti-Zaugg, 1997, Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques, Cancer Res, 57, 3288

Cho, 2009, Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization, Korean J Lab Med, 29, 71, 10.3343/kjlm.2009.29.1.71

Palomares, 2006, MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation, Clin Genet, 69, 228, 10.1111/j.1399-0004.2006.00567.x

Brems, 2007, Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype, Nat Genet, 39, 1120, 10.1038/ng2113

Pasmant, 2009, SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype, J Med Genet, 46, 425, 10.1136/jmg.2008.065243

Spurlock, 2009, SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the NF1 phenotype, J Med Genet, 46, 431, 10.1136/jmg.2008.065474

Wimmer, 2002, A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene, Eur J Hum Genet, 10, 334, 10.1038/sj.ejhg.5200807

Krawczak, 2007, Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing, Hum Mutat, 28, 150, 10.1002/humu.20400

Danglot, 1995, Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene, Hum Mol Genet, 4, 915, 10.1093/hmg/4.5.915

Mantripragada, 2006, Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH, J Med Genet, 43, 28, 10.1136/jmg.2005.033795