Accès libre

Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of three novel variants

À propos de cet article

Citez

Friedman JM. Neurofibromatosis 1. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., Editors. Gene Reviews® [Internet]. Seattle, WA, USA: University of Washington, 1993-2016.FriedmanJM. Neurofibromatosis 1 PagonRAAdamMPArdingerHHWallaceSEAmemiyaABeanLJH et al Gene Reviews® [Internet] Seattle, WA, USA University of Washington 19932016Search in Google Scholar

Brosius S. A history of von Recklinghausen’s NF1. J Hist Neurosci. 2010; 19(4): 333-348.BrosiusS. A history of von Recklinghausen’s NF1 J Hist Neurosci. 2010 19 4 333 348Search in Google Scholar

Pasmant E, Parfait B, Luscan A, Goussard P, Briand-Suleau A, Laurendeau I, et al. Neurofibromatosis type 1 molecular diagnosis: What can NGS do for you when you have a large gene with loss of function mutations? Eur J Hum Genet. 2015; 23(5): 596-601.PasmantEParfaitBLuscanAGoussardPBriand-SuleauALaurendeauI Neurofibromatosis type 1 molecular diagnosis: What can NGS do for you when you have a large gene with loss of function mutations? Eur J Hum Genet. 2015 23 5 596 601Search in Google Scholar

Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997; 278(1): 51-57.GutmannDHAylsworthACareyJCKorfBMarksJPyeritzRE The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2 JAMA. 1997 278 1 51 57Search in Google Scholar

Cung W, Freedman LA, Khan NE, Romberg E, Gardner PJ, Bassim CW, et al. Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies.” Eur J Med Genet. 2015; 58(11): 584-590.CungWFreedmanLAKhanNERombergEGardnerPJBassimCW Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies.” Eur J Med Genet. 2015 58 11 584 590Search in Google Scholar

Sant DW, Margraf RL, Stevenson DA, Grossmann AH, Viskochil DH, Hanson H, et al. Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. J Med Genet. 2015; 52(4): 256-261.SantDWMargrafRLStevensonDAGrossmannAHViskochilDHHansonH Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1 J Med Genet. 2015 52 4 256 261Search in Google Scholar

Ratner N, Miller SJ. A RASopathy gene commonly mutated in cancer: The neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer. 2015; 15(5): 290-301.RatnerNMillerSJ. A RASopathy gene commonly mutated in cancer: The neurofibromatosis type 1 tumour suppressor Nat Rev Cancer. 2015 15 5 290 301Search in Google Scholar

Bernier A, Larbrisseau A, Perreault S. Café-au-lait macules and neurofibromatosis type I: A review of the literature. Pediatr Neurol. 2016; 60: 24-29.BernierALarbrisseauAPerreaultS. Café-au-lait macules and neurofibromatosis type I: A review of the literature Pediatr Neurol. 2016 60 24 29Search in Google Scholar

Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014; 133(1): 1-9.StensonPDMortMBallEVShawKPhillipsACooperDN. The Human Gene Mutation Database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine Hum Genet. 2014 133 1 1 9Search in Google Scholar

Maruoka R, Takenouchi T, Torii C, Shimizu A, Misu K, Higasa K, et al. The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: A validation study. Genet Test Mol Biomarkers. 2014; 18(11): 722-735.MaruokaRTakenouchiTToriiCShimizuAMisuKHigasaK The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: A validation study Genet Test Mol Biomarkers. 2014 18 11 722 735Search in Google Scholar

Zhu L, Zhang Y, Tong H, Shao M, Gu Y, Du X, et al. Clinical and molecular characterization of NF1 patients: Single-center experience of 32 patients from China. Medicine (Baltimore). 2016; 95(10): e3043.ZhuLZhangYTongHShaoMGuYDuX Clinical and molecular characterization of NF1 patients: Single-center experience of 32 patients from China Medicine (Baltimore). 2016 95 10 e3043Search in Google Scholar

van Minkelen R, van Bever Y, Kromosoeto JN, Withagen-Hermans CJ, Nieuwlaat A, Halley DJ, et al. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in The Netherlands. Clin Genet. 2014; 85(4): 318-327.van MinkelenRvan BeverYKromosoetoJN Withagen-HermansCJNieuwlaatAHalleyDJ A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in The Netherlands Clin Genet. 2014 85 4 318 327Search in Google Scholar

Bianchessi D, Morosini S, Saletti V, Ibba MC, Natacci F, Esposito S, et al. 126 novel mutations in Italian patients with neurofibromatosis type 1. Mol Genet Genomic Med. 2015; 3(6): 513-525.BianchessiDMorosiniSSalettiVIbbaMCNatacciFEspositoS 126 novel mutations in Italian patients with neurofibromatosis type 1 Mol Genet Genomic Med. 2015 3 6 513 525Search in Google Scholar

Terzi YK, Oguzkan-Balci S, Anlar B, Aysun S, Guran S, Ayter S. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: Importance of genetic counseling. Genet Couns. 2009; 20(2): 195-202.TerziYK Oguzkan-BalciSAnlarBAysunSGuranSAyterS. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: Importance of genetic counseling Genet Couns. 2009 20 2 195 202Search in Google Scholar

Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative genomics viewer. Nat Biotechnol. 2011; 29(1): 24-26.RobinsonJT ThorvaldsdóttirHWincklerWGuttmanMLanderESGetzG Integrative genomics viewer Nat Biotechnol. 2011 29 1 24 26Search in Google Scholar

Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. Improving sequence variant descriptions in mutation databases and literature using the mutalyzer sequence variation nomenclature checker. Hum Mutat. 2008; 29(1): 6-13.WildemanMvan OphuizenEden DunnenJTTaschnerPE. Improving sequence variant descriptions in mutation databases and literature using the mutalyzer sequence variation nomenclature checker Hum Mutat. 2008 29 1 6 13Search in Google Scholar

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405-424.RichardsSAzizNBaleSBickDDasSGastier-FosterJ ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med. 2015 17 5 405 424Search in Google Scholar

Griffiths S, Thompson P, Frayling I, Upadhyaya M. Molecular diagnosis of neurofibromatosis type 1: 2 years experience. Fam Cancer. 2007; 6(1): 21-34.GriffithsSThompsonPFraylingIUpadhyayaM. Molecular diagnosis of neurofibromatosis type 1: 2 years experience Fam Cancer. 2007 6 1 21 34Search in Google Scholar

Leskelä HV, Kuorilehto T, Risteli J, Koivunen J, Nissinen M, Peltonen S, et al. Congenital pseudarthrosis of neurofibromatosis type 1: Impaired osteoblast differentiation and function and altered NF1 gene expression. Bone. 2009; 44(2): 243-250.LeskeläHVKuorilehtoTRisteliJKoivunenJNissinenMPeltonenS Congenital pseudarthrosis of neurofibromatosis type 1: Impaired osteoblast differentiation and function and altered NF1 gene expression Bone. 2009 44 2 243 250Search in Google Scholar

Robinson PN, Buske A, Neumann R, Tinschert S, Nürnberg P. Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis. Hum Mutat. 1996; 7(1): 85-88.RobinsonPNBuskeANeumannRTinschertSNürnbergP. Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis Hum Mutat. 1996 7 1 85 88Search in Google Scholar

Maynard J, Krawczak M, Upadhyaya M. Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. Hum Genet. 1997; 99(5): 674-676.MaynardJKrawczakMUpadhyayaM. Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene Hum Genet. 1997 99 5 674 676Search in Google Scholar

Upadhyaya M, Maynard J, Osborn M, Harper PS. Six novel mutations in the neurofibromatosis type 1 (NF1) gene. Hum Mutat. 1997; 10(3): 248-250.UpadhyayaMMaynardJOsbornMHarperPS. Six novel mutations in the neurofibromatosis type 1 (NF1) gene Hum Mutat. 1997 10 3 248 250Search in Google Scholar

Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, et al. A major segment of the neurofi-bromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell. 1990; 62(1): 193-201.CawthonRMWeissRXuGFViskochilDCulverMStevensJ A major segment of the neurofi-bromatosis type 1 gene: cDNA sequence, genomic structure and point mutations Cell. 1990 62 1 193 201Search in Google Scholar

Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, et al. 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. 2000; 66(3): 790-818.FahsoldRHoffmeyerSMischungCGilleCEhlersCKücükceylanN 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. 2000 66 3 790 818Search in Google Scholar

De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, et al. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. Hum Mutat. 2004; 23(6): 629-643.De LucaASchirinziABuccinoABottilloISinibaldiLTorrenteI Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1 Hum Mutat. 2004 23 6 629 643Search in Google Scholar

Abernathy CR, Colman SD, Kousseff BG, Wallace MR. Two NF1 mutations: Frameshift in the GAP-related domain, and loss of two codons toward the 3’ end of the gene. Hum Mutat. 1994; 3(4): 347-352.AbernathyCRColmanSDKousseffBGWallaceMR. Two NF1 mutations: Frameshift in the GAP-related domain, and loss of two codons toward the 3’ end of the gene Hum Mutat. 1994 3 4 347 352Search in Google Scholar

Brems H, Park C, Maertens O, Pemov A, Messiaen L, Upadhyaya M, et al. Glomus tumors in neurofibromatosis type 1: Genetic, functional, and clinical evidence of a novel association. Cancer Res. 2009; 69(18): 7393-7401.BremsHParkCMaertensOPemovAMessiaenLUpadhyayaM Glomus tumors in neurofibromatosis type 1: Genetic, functional, and clinical evidence of a novel association Cancer Res. 2009 69 18 7393 7401Search in Google Scholar

Valero MC, Martín Y, Hernández-Imaz E, Marina Hernández A, Meleán G, Valero AM, et al. A highly sensitive genetic protocol to detect NF1 mutations. J Mol Diagn. 2011; 13(2): 113-122.ValeroMCMartínYHernández-ImazEMarina HernándezAMeleánGValeroAM A highly sensitive genetic protocol to detect NF1 mutations J Mol Diagn. 2011 13 2 113 122Search in Google Scholar

Böddrich A, Robinson PN, Schülke M, Buske A, Tinschert S, Nürnberg P. New evidence for a mutation hotspot in exon 37 of the NF1 gene. Hum Mutat. 1997; 9(4): 374-377.BöddrichARobinsonPNSchülkeMBuskeATinschertSNürnbergP. New evidence for a mutation hotspot in exon 37 of the NF1 gene Hum Mutat. 1997 9 4 374 377Search in Google Scholar

Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, et al. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet. 2003; 40(6): e82.ArsEKruyerHMorellMProsESerraERavellaA Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients J Med Genet. 2003 40 6 e82Search in Google Scholar

Terzi YK, Oguzkan S, Anlar B, Aysun S, Ayter S. Neurofibromatosis: Novel and recurrent mutations in Turkish patients. Pediatr Neurol. 2007; 37(6): 421-425.TerziYKOguzkanSAnlarBAysunSAyterS. Neurofibromatosis: Novel and recurrent mutations in Turkish patients Pediatr Neurol. 2007 37 6 421 425Search in Google Scholar

Koliou X, Fedonidis C, Kalpachidou T, Mangoura D. Nuclear import mechanism of neurofibromin for localization of the spindle and function in chromosome con-gression. J Neurochem. 2016; 136(1): 78-91.KoliouXFedonidisCKalpachidouTMangouraD. Nuclear import mechanism of neurofibromin for localization of the spindle and function in chromosome con-gression J Neurochem. 2016 136 1 78 91Search in Google Scholar

Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007; 80(1): 140-151.UpadhyayaMHusonSMDaviesMThomasNChuzhanovaNGiovanniniS An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation Am J Hum Genet. 2007 80 1 140 151Search in Google Scholar

Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, et al. NF1 microdeletions in neurofi-bromatosis type 1: From genotype to phenotype. Hum Mutat. 2010; 31(6): E1506-E1518.PasmantESabbaghASpurlockGLaurendeauIGrilloEHamelMJ NF1 microdeletions in neurofi-bromatosis type 1: From genotype to phenotype Hum Mutat. 2010 31 6 E1506E1518Search in Google Scholar

Rad E, Tee AR. Neurofribromatosis type I: Fundamental insights into cell signalling and cancer. Semin Cell Dev Biol. 2016; 52: 39-46.RadETeeAR. Neurofribromatosis type I: Fundamental insights into cell signalling and cancer Semin Cell Dev Biol. 2016 52 39 46Search in Google Scholar

eISSN:
1311-0160
Langue:
Anglais
Périodicité:
2 fois par an
Sujets de la revue:
Medicine, Basic Medical Science, other