Molekulargenetische untersuchung des PAX6-gens bei aniridie-patienten

Translated title of the contribution: Analysis of aniridia patients for mutations in the PAX6 gene

M. Wolf, B. Zabel, B. Lorenz, A. Blankenagel, M. B. Ghorbani, O. Schwenn, G. Wildhardt

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

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 at PAX6 gene mutation was found. Conclusion: The mutations result in a gene product with reduced function or a reduced 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 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.

Translated title of the contributionAnalysis of aniridia patients for mutations in the PAX6 gene
Original languageGerman
Pages (from-to)828-830
Number of pages3
JournalOphthalmologe
Volume95
Issue number12
DOIs
StatePublished - Dec 1 1998

Keywords

  • Aniridia
  • Mutations
  • PAX6
  • WAGR syndrome
  • Wilms' tumor risk

ASJC Scopus subject areas

  • Ophthalmology

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