Identification of a novel PAX6 mutation in a family with congenital aniridia

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 IDNA extraction.All of the 15 exons of PAX6 gene were amplified with PCR,and the product were purified with gel electrophoresis and sequenced.Results In both patients,a novel deletion mutation (c.957-958delCA) in exon 13 of PAX6 gene was identified,which has produced a terminator codon.The same mutation was not identified in healthy controls.Conclusion A c.957-958delCA mutation of PAX6 gene is probably the cause of aniridia in this Chinese family. Key words: Hereditary congenital aniridia; PAX6 gene; Gene mutation