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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Aniridia


Psychiatry related information on Aniridia

  • Magnetic resonance imaging (MRI) and smell testing reveal the absence or hypoplasia of the anterior commissure and reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency causes more widespread human neuro developmental anomalies [6].

High impact information on Aniridia

  • Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye [6].
  • A candidate aniridia gene, AN, which is the human homologue of the mouse Pax-6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13 [7].
  • These findings indicate that the human aniridia and murine Small eye phenotypes arise from homologous defects in PAX6 [8].
  • The mouse mutation Small eye (Sey), which has been proposed as a model for aniridia, results from defects in Pax-6, a gene containing paired-box and homeobox motifs that is specifically expressed in the developing eye and brain [8].
  • Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region [9].

Chemical compound and disease context of Aniridia

  • PAX6 mutation as a genetic factor common to aniridia and glucose intolerance [10].
  • A case of human aniridia, where arginine 208 of LKRKLQR is mutated into a tryptophan, has been reported recently [11].
  • BACKGROUND: Silicone keratopathy frequently develops as a complication of silicone oil tamponade in the management of severe trauma in eyes with partial or complete aniridia [12].

Biological context of Aniridia

  • Upon examining the DNA samples of aniridia patients, we identified three missense mutations in the PST domain: P375Q (a novel mutation) and the previously reported Q422R and X423L mutations [13].
  • However, aniridia cases with chromosomal rearrangements far downstream of an intact PAX6 gene suggested a requirement for additional cis-acting control for correct gene expression [14].
  • In five aniridia and one Peters' anomaly patients, all of the coding exons and their flanking exon-intron junctions of the PAX6 gene were surveyed for mutations [10].
  • However, several truncation mutations have been found to occur in the C-terminal half of PAX6 in patients with Aniridia resulting in mutant proteins that retain the DNA-binding domains but have lost most of the transactivation domain [15].
  • These studies show that a combined conventional and molecular cytogenetic approach to patients presenting with aniridia is a useful method for differentiating between those with deletions extending into and including WT1 and therefore between those with high and low risks of developing Wilms' tumour [16].

Anatomical context of Aniridia


Gene context of Aniridia

  • All observed mutations support the notion that haploinsufficiency in PAX6 results in aniridia and associated eye anomalies [22].
  • Mutations in Pax6 function result in eye malformations known as Aniridia in humans and Small eye syndrome in mice [23].
  • Mutations in a related gene, Pax-6, which, like Pax-3, has both a paired box and a paired-type homeobox sequence, cause the Small-eye mutation in mice and aniridia in man [24].
  • We have detected a submicroscopic 11p13 deletion in a child with inherited aniridia who subsequently presented with Wilms tumor in a horseshoe kidney, only revealed at surgery [5].
  • The possible role of PAXNEB in aniridia was assessed [25].


  1. Long range physical map of the Wilms' tumor-aniridia region on human chromosome 11. Compton, D.A., Weil, M.M., Jones, C., Riccardi, V.M., Strong, L.C., Saunders, G.F. Cell (1988) [Pubmed]
  2. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Glaser, T., Jepeal, L., Edwards, J.G., Young, S.R., Favor, J., Maas, R.L. Nat. Genet. (1994) [Pubmed]
  3. Development of homozygosity for chromosome 11p markers in Wilms' tumour. Orkin, S.H., Goldman, D.S., Sallan, S.E. Nature (1984) [Pubmed]
  4. DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site. Czerny, T., Schaffner, G., Busslinger, M. Genes Dev. (1993) [Pubmed]
  5. Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. Fantes, J.A., Bickmore, W.A., Fletcher, J.M., Ballesta, F., Hanson, I.M., van Heyningen, V. Am. J. Hum. Genet. (1992) [Pubmed]
  6. PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Sisodiya, S.M., Free, S.L., Williamson, K.A., Mitchell, T.N., Willis, C., Stevens, J.M., Kendall, B.E., Shorvon, S.D., Hanson, I.M., Moore, A.T., van Heyningen, V. Nat. Genet. (2001) [Pubmed]
  7. The human PAX6 gene is mutated in two patients with aniridia. Jordan, T., Hanson, I., Zaletayev, D., Hodgson, S., Prosser, J., Seawright, A., Hastie, N., van Heyningen, V. Nat. Genet. (1992) [Pubmed]
  8. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Glaser, T., Walton, D.S., Maas, R.L. Nat. Genet. (1992) [Pubmed]
  9. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Ton, C.C., Hirvonen, H., Miwa, H., Weil, M.M., Monaghan, P., Jordan, T., van Heyningen, V., Hastie, N.D., Meijers-Heijboer, H., Drechsler, M. Cell (1991) [Pubmed]
  10. PAX6 mutation as a genetic factor common to aniridia and glucose intolerance. Yasuda, T., Kajimoto, Y., Fujitani, Y., Watada, H., Yamamoto, S., Watarai, T., Umayahara, Y., Matsuhisa, M., Gorogawa, S., Kuwayama, Y., Tano, Y., Yamasaki, Y., Hori, M. Diabetes (2002) [Pubmed]
  11. Nuclear localization signals, DNA binding, and transactivation properties of quail Pax-6 (Pax-QNR) isoforms. Carrière, C., Plaza, S., Caboche, J., Dozier, C., Bailly, M., Martin, P., Saule, S. Cell Growth Differ. (1995) [Pubmed]
  12. The artificial iris diaphragm for vitreoretinal silicone oil surgery. Thumann, G., Kirchhof, B., Bartz-Schmidt, K.U., Jonescu-Cuypers, C.P., Esser, P., Konen, W., Heimann, K. Retina (Philadelphia, Pa.) (1997) [Pubmed]
  13. Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Singh, S., Chao, L.Y., Mishra, R., Davies, J., Saunders, G.F. Hum. Mol. Genet. (2001) [Pubmed]
  14. Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. Kleinjan, D.A., Seawright, A., Schedl, A., Quinlan, R.A., Danes, S., van Heyningen, V. Hum. Mol. Genet. (2001) [Pubmed]
  15. Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants. Singh, S., Tang, H.K., Lee, J.Y., Saunders, G.F. J. Biol. Chem. (1998) [Pubmed]
  16. A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. Crolla, J.A., Cawdery, J.E., Oley, C.A., Young, I.D., Gray, J., Fantes, J., van Heyningen, V. J. Med. Genet. (1997) [Pubmed]
  17. Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours. Fearon, E.R., Vogelstein, B., Feinberg, A.P. Nature (1984) [Pubmed]
  18. Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306. Narahara, K., Kikkawa, K., Kimira, S., Kimoto, H., Ogata, M., Kasai, R., Hamawaki, M., Matsuoka, K. Hum. Genet. (1984) [Pubmed]
  19. The potassium channel gene HK1 maps to human chromosome 11p14.1, close to the FSHB gene. Gessler, M., Grupe, A., Grzeschik, K.H., Pongs, O. Hum. Genet. (1992) [Pubmed]
  20. A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia. Nishi, M., Sasahara, M., Shono, T., Saika, S., Yamamoto, Y., Ohkawa, K., Furuta, H., Nakao, T., Sasaki, H., Nanjo, K. Diabet. Med. (2005) [Pubmed]
  21. Impaired DNA repair capacity in skin fibroblasts from various hereditary cancer-prone syndromes. Abrahams, P.J., Houweling, A., Cornelissen-Steijger, P.D., Jaspers, N.G., Darroudi, F., Meijers, C.M., Mullenders, L.H., Filon, R., Arwert, F., Pinedo, H.M., Natarajan, A.P., Terleth, C., Van Zeeland, A.A., van der Eb, A.J. Mutat. Res. (1998) [Pubmed]
  22. Mutation in the PAX6 gene in twenty patients with aniridia. Chao, L.Y., Huff, V., Strong, L.C., Saunders, G.F. Hum. Mutat. (2000) [Pubmed]
  23. The Rx homeobox gene is essential for vertebrate eye development. Mathers, P.H., Grinberg, A., Mahon, K.A., Jamrich, M. Nature (1997) [Pubmed]
  24. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Tassabehji, M., Read, A.P., Newton, V.E., Harris, R., Balling, R., Gruss, P., Strachan, T. Nature (1992) [Pubmed]
  25. Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance. Kleinjan, D.A., Seawright, A., Elgar, G., van Heyningen, V. Mamm. Genome (2002) [Pubmed]
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