Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

PAX6-Gen

Das PAX6-Gen kodiert das Paired-Box-6-Protein, ein Transkriptionsfaktor, der Bei der Entwicklung des Nervensystems und des Auges eine Rolle spielt. Mutationen sind für autosomal dominante Augenerkrankungen, wie die Aniridie und das Peter-Syndrom verantwortlich. Mikrodeletionen, die das benachbarte WT1-Gen einschließen führen zu dem Aniridie-Wilms-Tumor-Syndrom.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 20 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Aniridie-Wilms-Tumor-Syndrom
PAX6
WT1
WAGR-Syndrom
PAX6
WT1

Referenzen:

1.

Lauderdale JD et al. (2000) 3' deletions cause aniridia by preventing PAX6 gene expression.

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2.

Sisodiya SM et al. (2001) PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

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3.

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4.

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5.

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6.

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7.

Stone DL et al. (1976) Congenital central corneal leukoma (Peters' anomaly).

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8.

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9.

Mitchell TN et al. (2003) Polymicrogyria and absence of pineal gland due to PAX6 mutation.

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10.

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11.

Fantes JA et al. (1992) Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

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12.

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13.

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14.

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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.

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28.

None (1994) On the evolution of eyes: would you like it simple or compound?

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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.

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35.

Azuma N et al. (1999) Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

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36.

Kioussi C et al. (1999) Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development.

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37.

Bishop KM et al. (2000) Regulation of area identity in the mammalian neocortex by Emx2 and Pax6.

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38.

Wawersik S et al. (2000) Vertebrate eye development as modeled in Drosophila.

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39.

Ashery-Padan R et al. (2000) Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye.

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40.

Marquardt T et al. (2001) Pax6 is required for the multipotent state of retinal progenitor cells.

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41.

Singh S et al. (2001) Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

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42.

Cushman LJ et al. (2001) Molecular basis of pituitary dysfunction in mouse and human.

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43.

Scardigli R et al. (2001) Crossregulation between Neurogenin2 and pathways specifying neuronal identity in the spinal cord.

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44.

Kleinjan DA et al. (2001) Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.

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45.

Heins N et al. (2002) Glial cells generate neurons: the role of the transcription factor Pax6.

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46.

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47.

Singh S et al. (2002) Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform.

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48.

van Heyningen V et al. (2002) PAX6 in sensory development.

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49.

Zhang X et al. (2002) Meis homeoproteins directly regulate Pax6 during vertebrate lens morphogenesis.

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50.

Chao LY et al. (2003) Missense mutations in the DNA-binding region and termination codon in PAX6.

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51.

Azuma N et al. (2003) Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

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52.

None (2004) Two Pax are better than one.

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53.

Dominguez M et al. (2004) Growth and specification of the eye are controlled independently by Eyegone and Eyeless in Drosophila melanogaster.

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54.

Chauhan BK et al. (2004) Functional properties of natural human PAX6 and PAX6(5a) mutants.

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55.

Bamiou DE et al. (2004) Defective auditory interhemispheric transfer in a patient with a PAX6 mutation.

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56.

Bamiou DE et al. (2004) Deficient auditory interhemispheric transfer in patients with PAX6 mutations.

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57.

Vincent MC et al. (2004) Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.

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58.

Azuma N et al. (2005) The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure.

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59.

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60.

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61.

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62.

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63.

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64.

Ticho BH et al. (2006) Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.

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65.

Bandah D et al. (2007) A complex expression pattern of Pax6 in the pigeon retina.

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66.

Morell RJ et al. (2007) A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait.

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67.

Graziano C et al. (2007) A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

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68.

Massé K et al. (2007) Purine-mediated signalling triggers eye development.

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69.

Robinson DO et al. (2008) Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

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70.

Holmström GE et al. (1991) Heterogeneity in dominant anterior segment malformations.

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71.

Hansen DV et al. (2010) Neurogenic radial glia in the outer subventricular zone of human neocortex.

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72.

O'Donnell FE et al. (1982) Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome.

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73.

Hanson I et al. (1995) Pax6: more than meets the eye.

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74.

Hanson I et al. (1995) A new PAX6 mutation in familial aniridia.

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75.

Mirzayans F et al. (1995) Mutation of the PAX6 gene in patients with autosomal dominant keratitis.

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76.

Richardson J et al. (1995) Pax-6 is essential for lens-specific expression of zeta-crystallin.

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77.

Halder G et al. (1995) Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila.

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78.

Davis A et al. (1993) Mutations in the PAX6 gene in patients with hereditary aniridia.

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79.

Hanson IM et al. (1994) Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.

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80.

Azuma N et al. (1996) PAX6 missense mutation in isolated foveal hypoplasia.

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81.

St-Onge L et al. (1997) Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas.

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82.

Sander M et al. (1997) Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet development.

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83.

Singh S et al. (1998) Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.

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84.

Hanson I et al. (1999) Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

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85.

Orphanet article

Orphanet ID 124094 [^]
86.

NCBI article

NCBI 5080 [^]
87.

OMIM.ORG article

Omim 607108 [^]
Update: 9. Mai 2019