Abstract
Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. 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. Here we describe mutations in this gene in two cases of sporadic aniridia, one detected at the DNA level and one at the RNA level, both of which are predicted to affect protein function. Mutations in Pax–6 have been described previously in Small eye, the proposed mouse model for aniridia. We present new phenotypic evidence for the validity of this mouse model.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Shaw, M.W., Falls, H.F. & Neel, J.V. Am. J. hum. Gen. 12, 389–415 (1960).
Hittner, H.M., Kretzer, F.L., Antoszyk, H.J., Ferrell, R.E. & Mehta, R.S. Am. J. Opthalmol. 93, 57–70 (1982).
Elsas, F.J., Maumenee, I.H., Kenyon, K.R. & Yoder, F. Am. J. Ophthalmol. 83, 718–724 (1977).
Nelson, L.B., Spaeth, G.L., Nowinski, T.S., Margo, C.E. & Laird, J. Surv. Ophthalmol. 28, 621–642 (1984).
Nevin, N.C. & Lim, J.H.K. Am. J. med. Gen. 35, 468–469 (1990).
Francke, U., Riccardi, V.M., Hittner, H.M. & Borges, W. Am. J. hum. Genet. 30, 81A (1978).
Ferrell, R.E., Chakravarti, A., Hittner, H.M. & Riccardi, V. Proc. natn. Acad. Sci. U.S.A. 77, 1580–1583 (1980).
Lyons, L.A., Martha, A., Mintz-Hittner, H.A., Saunders, G.F. & Ferrell, R.E. Genomics (in the press).
Mannens, M. et al. Cytogenet. Cell Genet. 52, 32–36 (1989).
Gessler, M., Simola, K.O.J. & Bruns, G.A.P. Science 244, 1575–1578 (1989).
Ton, C.C.T. et al. Cell 67, 1059–1074 (1991).
Walther, C. & Gruss, P. Development 113, 1435–1449 (1991).
Krauss, S. et al. EMBO J. 12, 3609–3619 (1991).
Hill, R.E. et al. Nature 354, 522–525 (1991).
Glaser, T., Lane, J. & Housman, D. Science 250, 823–827 (1990).
Van Der Meer-De Jong, R. et al. Genomics, 7, 270–275 (1990).
Hogan, B.L.M. et al. embryol. exp. Morph. 97, 95–110 (1986).
Hodgson, S.V. & Saunders, K.E. J. med. Genet. 6, 478–480 (1980).
Green, M.C., in Genetic Variants and Strains of the Laboratory Mouse (eds Lyon, M.F. & Searle, A.G.) 12–403 (Oxford University Press, 1989).
Theiler, K., Varnum, D.S. & Stevens, L.C. Anat. Embryol. 155, 81–86 (1978).
Keen, J., Lester, D., Inglehearn, C., Curtis, A. & Bhattacharya, S. Trends Genet. 7, 5 (1991).
Walther, C. et al. Genomics 11, 424–434 (1991).
Roberts, R.G., Barby, T.F.M., Manners, E., Bobrow, M. & Bentley, D.R. Am. J. hum. Genet. 49, 298–310 (1991).
Bopp, D., Burri, M., Baumgartner, S., Frigerio, G. & Noll, M. Cell 47, 1033–1040 (1986).
Burri, M., Tromvoukis, Y., Bopp, D., Frigerio, G. & Noll, M. EMBO J. 8, 1183–1190 (1989).
Epstein, D.J., Vekemans, M. & Gros, P. Cell 67, 767–774 (1991).
Tassabehji, M. et al. Nature 355, 635–636 (1992).
Baldwin, C.T., Hoth, C.F., Amos, J.A., da-Silva, E.O. & Milunsky, A. Nature 355, 637–638 (1992).
Chalepakis, G., et al. Cell 66, 873–884 (1991).
Treisman, J., Harris, E. & Desplan, C. Genes Dev. 5, 594–604 (1991).
Puschel, A.W., Gruss, P. & Westerfield, M. Development, 643–651 (1992).
Warwick, R. & Williams, L.P. in Gray's Anatomy 35th edn (Longman, London, 1973).
Davis, L.M., Everest, A.M., Simola, K.O.J. & Shows, T.B. Somat. Cell molec. Genet. 15, 605–615 (1989).
Wenger, R.H. & Neilsen, P.J. Trends Genet. 7, 178 (1989).
Don, R.H. et al. Nucl. Acids Res. 19, 4008 (1991).
Winship, P.R. Nucl. Acids Res. 17, 1266 (1989).
Chomczynski, P. & Sacchi, N. Anal. Biochem. 162, 156–159 (1987).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Jordan, T., Hanson, I., Zaletayev, D. et al. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet 1, 328–332 (1992). https://doi.org/10.1038/ng0892-328
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/ng0892-328
This article is cited by
-
A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD
BMC Medical Genomics (2023)
-
Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene
European Journal of Human Genetics (2023)
-
A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus
BMC Ophthalmology (2021)
-
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
European Journal of Human Genetics (2021)
-
Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease
Human Genetics (2021)