Mutation analysis of a family affected with congenital aniridia and congenital cataract / 国际眼科杂志(Guoji Yanke Zazhi)

ABSTRACT

@#AIM: To identify the potential mutation in a Chinese family affected with congenital aniridia and cataract, which can expands the mutation spectrum of antosomal dominant congenital aniridia.<p>METHODS: A Chinese family with congenital aniridia and cataract and 100 unrelated controls were recruited, peripheral venous blood was collected for genomic DNA extraction. Candidate genes sequencing was performed by direct DNA sequencing to screen out the <i>PAX6 </i>mutation.<p>RESULTS: All affected individuals in the family showed aniridia and cataract. A novel non-sense mutation c.991 C>T in exon 11 of <i>PAX6</i> was exclusively observed in all affected individuals but not in any of the unaffected family members or unrelated controls, which results in the truncation of encoding protein(R331X). <p>CONCLUSION: We identified a novel mutation in the <i>PAX6</i> R331X, which may be responsible for the pathogenesis of congenital aniridia and cataract.