Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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

Referenzen:

1.

Grønskov K et al. (1999) Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

Grønskov K et al. (2001) Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.

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13.

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

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14.

Malandrini A et al. (2001) PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

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15.

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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16.

Morrison D et al. (2002) National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

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17.

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

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18.

Thaung C et al. (2002) Novel ENU-induced eye mutations in the mouse: models for human eye disease.

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19.

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

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20.

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

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21.

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

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22.

Curran RE et al. (1976) Isolated foveal hypoplasia.

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23.

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

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24.

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

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25.

Ramaesh T et al. (2003) Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy.

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26.

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

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27.

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

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28.

Jordan T et al. (1992) The human PAX6 gene is mutated in two patients with aniridia.

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29.

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

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30.

Mann RS et al. (2004) Two Pax are better than one.

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31.

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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32.

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

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33.

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

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34.

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

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35.

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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36.

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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37.

Azuma N et al. (2005) Transdifferentiation of the retinal pigment epithelia to the neural retina by transfer of the Pax6 transcriptional factor.

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38.

Davis-Silberman N et al. (2005) Genetic dissection of Pax6 dosage requirements in the developing mouse eye.

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39.

Ton CC et al. (1992) Small eye (Sey): cloning and characterization of the murine homolog of the human aniridia gene.

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40.

D'Elia AV et al. (2006) Molecular analysis of a human PAX6 homeobox mutant.

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41.

Atchaneeyasakul LO et al. (2006) Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients.

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42.

Ramaesh T et al. (2006) Increased apoptosis and abnormal wound-healing responses in the heterozygous Pax6+/- mouse cornea.

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43.

Hever AM et al. (2006) Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.

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44.

Hill RE et al. () Mouse small eye results from mutations in a paired-like homeobox-containing gene.

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45.

Ton CC et al. (1991) Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.

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46.

Walther C et al. (1991) Pax-6, a murine paired box gene, is expressed in the developing CNS.

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47.

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

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48.

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

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49.

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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50.

Li S et al. (2007) The requirement of pax6 for postnatal eye development: evidence from experimental mouse chimeras.

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51.

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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52.

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

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53.

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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54.

Davis LK et al. (2008) Pax6 3' deletion results in aniridia, autism and mental retardation.

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55.

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

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56.

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

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57.

Glaser T et al. (1990) A mouse model of the aniridia-Wilms tumor deletion syndrome.

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58.

van der Meer-de Jong R et al. (1990) Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2).

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59.

Oliver MD et al. (1987) Isolated foveal hypoplasia.

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60.

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

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61.

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

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62.

Martha A et al. (1995) Three novel aniridia mutations in the human PAX6 gene.

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63.

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

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64.

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

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65.

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

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66.

Fantes J et al. (1995) Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.

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67.

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

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68.

Quiring R et al. (1994) Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans.

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69.

Glaser T et al. (1994) PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.

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70.

Matsuo T et al. (1993) A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells.

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71.

Karpen GH et al. (1994) Position-effect variegation and the new biology of heterochromatin.

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72.

Zuker CS et al. (1994) On the evolution of eyes: would you like it simple or compound?

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73.

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

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74.

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

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75.

Hanson IM et al. (1993) PAX6 mutations in aniridia.

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76.

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

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77.

Schedl A et al. (1996) Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities.

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78.

Crolla JA et al. (1996) FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

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79.

Axton R et al. (1997) The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

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80.

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

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81.

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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82.

Prosser J et al. (1998) PAX6 mutations reviewed.

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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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