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 |
Verknüpfte Erkrankungen:
Referenzen:
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.
|
4. |
Ton CC et al. (1992) Small eye (Sey): cloning and characterization of the murine homolog of the human aniridia gene.
|
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.
|
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.
|
34. |
Hanson I et al. (1995) Pax6: more than meets the eye.
|
35. |
O'Donnell FE et al. (1982) Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome.
|
36. |
Hansen DV et al. (2010) Neurogenic radial glia in the outer subventricular zone of human neocortex.
|
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
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86. |
NCBI article
NCBI 5080
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87. |
OMIM.ORG article
Omim 607108
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Update: 14. August 2020