Objective: To detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia.
Methods: Peripheral blood samples were taken for genomic DNA extraction. All of the 15 exons of PAX6 gene were amplified with PCR. The product were purified with gel electrophoresis and sequenced.
Results: In both patients, a novel deletion mutation (c.957-958delCA) in exon 13 of the PAX6 gene was identified, which has produced a terminator codon. The same mutation was not found in healthy controls.
Conclusion: A c.957-958delCA mutation of PAX6 gene is probably the cause of aniridia in this Chinese family.