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.

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 PAX6 mutation.

RESULTS: All affected individuals in the family showed aniridia and cataract. A novel non-sense mutation c.991 C>T in exon 11 of PAX6 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).

CONCLUSION: We identified a novel mutation in the PAX6 R331X, which may be responsible for the pathogenesis of congenital aniridia and cataract.