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Paired box 6 gene

The PAX6 gene encodes paired box 6, a transcription factor. Mutations in this gene cause autosomal dominant ocular disorders such as aniridia and Peter's anomaly. Aniridia associated with Wilms tumor is caused by microdeletions involving the neighboring WT1 gene.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Aniridia-Wilms-tumor syndrome
PAX6
WT1
WAGR syndrome
PAX6
WT1

References:

1.

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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2.

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

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3.

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

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4.

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

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5.

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

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6.

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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7.

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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8.

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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9.

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

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10.

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

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11.

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

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12.

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

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13.

None (2004) Two Pax are better than one.

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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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22.

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

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23.

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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24.

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

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25.

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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26.

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

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27.

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

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28.

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

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29.

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

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30.

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

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31.

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

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32.

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

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33.

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

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34.

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

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35.

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

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36.

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

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37.

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

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38.

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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39.

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

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40.

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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41.

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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42.

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

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43.

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

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44.

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

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45.

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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46.

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

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47.

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

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48.

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

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49.

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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50.

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

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51.

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

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52.

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

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53.

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

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54.

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

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55.

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

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56.

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

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57.

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

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58.

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

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59.

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

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60.

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

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61.

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

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62.

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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63.

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

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64.

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

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65.

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

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66.

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

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67.

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

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68.

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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69.

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

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70.

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

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71.

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

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72.

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

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73.

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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74.

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

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75.

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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76.

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

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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.

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

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79.

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

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80.

None (1994) Position-effect variegation and the new biology of heterochromatin.

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81.

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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82.

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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83.

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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84.

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

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85.

Orphanet article

Orphanet ID 124094 external link
86.

NCBI article

NCBI 5080 external link
87.

OMIM.ORG article

Omim 607108 external link
88.

Wikipedia article

Wikipedia EN (PAX6) external link
Update: Aug. 14, 2020
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