Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Neurofibromin

Das NF1-Gen kodiert ein Portein welches an der Signaltransduktion beteiligt ist. Es ist ein negativer Regulator des intrazellulären ras-Weges. Mutationen führen zu autosomal dominanten Erkrankungen wie Neurofibromatose 1, Watson-Syndrom und juveniler myelomonozytärer Leukämie. Letztere wird auch bei somatischen Mutationen gesehen.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Juvenile myelomonozyäre Leukämie
NF1
Spinale Form der Neurofibromatose
NF1
Neurofibromatose 1
NF1
Neurofibromatose-Noonan-Syndrom
NF1
Watson-Syndrome
NF1

Referenzen:

1.

Mukhopadhyay D et. al. (2002) C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme.

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2.

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3.

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4.

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5.

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6.

Legius E et. al. (1992) NF1-related locus on chromosome 15.

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7.

Daston MM et. al. (1992) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes.

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8.

DeClue JE et. al. (1992) Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis.

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9.

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10.

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11.

Xu G et. al. (1992) Characterization of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene.

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12.

Viskochil D et. al. (1990) Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

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13.

Pulst SM et. al. (1991) Familial spinal neurofibromatosis: clinical and DNA linkage analysis.

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14.

Estivill X et. al. (1991) Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

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15.

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16.

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17.

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18.

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19.

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20.

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21.

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22.

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23.

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24.

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25.

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26.

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27.

Hull J et. al. (1994) The stop mutation R553X in the CFTR gene results in exon skipping.

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28.

Purandare SM et. al. (1995) Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene.

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29.

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30.

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31.

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32.

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33.

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34.

Valero MC et. al. (1994) Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).

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35.

Tassabehji M et. al. (1993) Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

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36.

Nakafuku M et. al. (1993) Suppression of oncogenic Ras by mutant neurofibromatosis type 1 genes with single amino acid substitutions.

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37.

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38.

Dietz HC et. al. (1993) The skipping of constitutive exons in vivo induced by nonsense mutations.

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39.

Johnson MR et. al. (1993) Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras.

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40.

Skuse GR et. al. (1996) The neurofibromatosis type I messenger RNA undergoes base-modification RNA editing.

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41.

Robinson PN et. al. (1996) Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.

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42.

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43.

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44.

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45.

Cappione AJ et. al. (1997) A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors.

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46.

Silva AJ et. al. (1997) A mouse model for the learning and memory deficits associated with neurofibromatosis type I.

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47.

The I et. al. (1997) Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.

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48.

Guo HF et. al. (1997) Requirement of Drosophila NF1 for activation of adenylyl cyclase by PACAP38-like neuropeptides.

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49.

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50.

Maynard J et. al. (1997) Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.

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51.

Side L et. al. (1997) Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders.

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52.

Abernathy CR et. al. (1997) NF1 mutation analysis using a combined heteroduplex/SSCP approach.

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53.

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54.

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55.

Hoffmeyer S et. al. (1998) Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

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56.

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57.

Side LE et. al. (1998) Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1.

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58.

Klose A et. al. (1998) Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

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59.

Kluwe L et. al. (1999) Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas.

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60.

Osborn MJ et. al. (1999) Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.

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61.

Faravelli F et. al. (1999) Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.

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62.

Ars E et. al. (2000) Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

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63.

Eisenbarth I et. al. (2000) Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.

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64.

Fahsold R et. al. (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.

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65.

Park KC et. al. (2000) A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient.

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66.

Messiaen LM et. al. (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

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67.

Gutzmer R et. al. (2000) Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma.

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68.

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69.

None (2001) The neurofibromatoses: when less is more.

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70.

Messiaen LM et. al. () Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

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71.

Luijten M et. al. (2001) Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22.

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72.

Kaufmann D et. al. (2001) Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.

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73.

Weeber EJ et. al. (2002) Molecular neurobiology of human cognition.

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74.

Gervasini C et. al. (2002) Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.

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75.

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76.

Fairbrother WG et. al. (2002) Predictive identification of exonic splicing enhancers in human genes.

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77.

Kehrer-Sawatzki H et. al. (2002) Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication.

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78.

Maris JM et. al. (2002) Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13.

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79.

Upadhyaya M et. al. (2003) Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

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80.

Ruiz-Lozano P et. al. (2003) Cre-constructing the heart.

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81.

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82.

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83.

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84.

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85.

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86.

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87.

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88.

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89.

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90.

Zatkova A et. al. (2004) Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

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91.

Ragge NK et. al. (2005) Heterozygous mutations of OTX2 cause severe ocular malformations.

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92.

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93.

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94.

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95.

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96.

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97.

Upadhyaya M et. al. (2007) 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.

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98.

Kolanczyk M et. al. (2007) Multiple roles for neurofibromin in skeletal development and growth.

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99.

Henderson RA et. al. (2007) Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

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100.

None (2008) Comprehensive genomic characterization defines human glioblastoma genes and core pathways.

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101.

Sabbagh A et. al. (2009) Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

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102.

Thiel C et. al. (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

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103.

Nyström AM et. al. (2009) Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

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104.

Phan VT et. al. (2010) The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast and ETEA in humans.

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105.

Lubeck BA et. al. (2015) Cutting Edge: Codeletion of the Ras GTPase-Activating Proteins (RasGAPs) Neurofibromin 1 and p120 RasGAP in T Cells Results in the Development of T Cell Acute Lymphoblastic Leukemia.

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