Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

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.

Wallace MR et al. (1991) A de novo Alu insertion results in neurofibromatosis type 1.

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3.

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

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4.

Allanson JE et al. (1985) Noonan phenotype associated with neurofibromatosis.

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5.

Colley A et al. (1996) Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.

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6.

Baralle D et al. (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

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7.

Bertola DR et al. (2005) Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

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8.

De Luca A et al. (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

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9.

Stevenson DA et al. (2006) Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

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10.

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11.

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12.

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13.

Heim RA et al. (1994) Screening for truncated NF1 proteins.

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14.

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15.

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

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16.

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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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.

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28.

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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.

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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34.

Messiaen L et al. (2003) Independent NF1 mutations in two large families with spinal neurofibromatosis.

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35.

Upadhyaya M et al. (1992) Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

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36.

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37.

Upadhyaya M et al. (1990) A 90 kb DNA deletion associated with neurofibromatosis type 1.

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38.

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39.

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40.

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41.

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42.

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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43.

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44.

Stark M et al. (1992) Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus.

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45.

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

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46.

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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47.

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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48.

Li Y et al. (1992) Somatic mutations in the neurofibromatosis 1 gene in human tumors.

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49.

Basu TN et al. (1992) Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients.

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50.

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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51.

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

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52.

Marchuk DA et al. (1991) cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.

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53.

Stark M et al. (1991) A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene.

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54.

Gutmann DH et al. (1991) Identification of the neurofibromatosis type 1 gene product.

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55.

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56.

Xu GF et al. (1990) The neurofibromatosis type 1 gene encodes a protein related to GAP.

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57.

Buchberg AM et al. (1990) Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway.

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58.

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

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59.

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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60.

Lázaro C et al. (1995) Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.

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61.

Vogel KS et al. (1995) Loss of neurofibromin results in neurotrophin-independent survival of embryonic sensory and sympathetic neurons.

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62.

Li Y et al. (1995) Genomic organization of the neurofibromatosis 1 gene (NF1).

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63.

Horiuchi T et al. (1994) Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese.

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64.

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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65.

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

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66.

Ainsworth PJ et al. (1993) Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.

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67.

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

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68.

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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69.

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

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70.

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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71.

Wu R et al. (1996) Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.

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72.

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

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73.

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

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74.

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

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75.

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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76.

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

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77.

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

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78.

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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79.

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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80.

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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81.

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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82.

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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83.

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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84.

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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85.

Liu HX et al. (2001) A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

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86.

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

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87.

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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88.

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

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89.

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

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90.

Cartegni L et al. (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing.

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91.

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

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92.

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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93.

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

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94.

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

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95.

Kehrer-Sawatzki H et al. (2003) Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply.

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96.

Colapietro P et al. (2003) NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

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97.

Castle B et al. (2003) Evaluation of genotype-phenotype correlations in neurofibromatosis type 1.

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98.

Mosse YP et al. (2004) Germline PHOX2B mutation in hereditary neuroblastoma.

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99.

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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100.

Ling JQ et al. (2006) CTCF mediates interchromosomal colocalization between Igf2/H19 and Wsb1/Nf1.

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101.

Trovó-Marqui AB et al. (2006) Neurofibromin: a general outlook.

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102.

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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103.

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

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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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106.

NCBI article

NCBI 4763 external link
107.

OMIM.ORG article

Omim 613113 external link
108.

Orphanet article

Orphanet ID 123772 external link
109.

Wikipedia Artikel

Wikipedia DE (Neurofibromin) external link
Update: 14. August 2020
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