Wolf, M. and Zabel, B. and Lorenz, B. and Blankenagel, A. and Ghorbani, M. B. and Schwenn, O. and Wildhardt, G. (1998) Analysis of aniridia patients for mutations in the PAX6 gene. OPHTHALMOLOGE, 95 (12). pp. 828-830. ISSN 0941-293X, 1433-0423
Full text not available from this repository.Abstract
Introduction: Aniridia represents a congenital ocular disorder with partial or complete iris hypoplasia. The disorder is associated with poor vision, glaucoma, corneal and lenticular opacities, ectopia lentis due to abnormal zonula fibers, as well as optic nerve and macular abnormalities. Aniridia may present as either hereditary or sporadic cases. Some of the sporadic cases develop Wilms' tumor, frequently as part of the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation). PAX6, a candidate gene located on chromosome 11p13, is often mutated in aniridia patients. The gene encodes a transcription regulatory protein. Method: Analysis of the PAX6 gene was done using PCR (polymerase chain reaction), SSCP (single strand conformation polymorphism) and DNA sequencing. Results: In 13 of 20 aniridia patients a PAX6 gene mutation was found. Conclusion: The mutations result in a gene product with reduced function or a reduced PAX6 protein level. Molecular analysis of aniridia is also a valuable diagnostic tool for Wilms' tumor risk evaluation, as patients with proven PAX6 mutations - in contrast to cases with large deletions of the 11p13 region - are at no increased risk to develop Wilms' tumor.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CLONING; DOMAIN; EYE; aniridia; WAGR syndrome; PAX6; mutations; Wilms' tumor risk |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 21 Feb 2023 09:12 |
| Last Modified: | 21 Feb 2023 09:12 |
| URI: | https://pred.uni-regensburg.de/id/eprint/49317 |
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