Identification of a novel PAX6 mutation in a family with congenital aniridia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>A c.957-958delCA mutation of PAX6 gene is probably the cause of aniridia in this Chinese family.</p>