[Analysis of PAX6 gene mutations in a Chinese family affected with congenital aniridia]

Abstract

Objective: To investigate the mutation of PAX6 gene in a Chinese family affected with congenital aniridia.

Methods: Blood samples were drawn from family members, and DNA was analyzed by direct sequencing.

Results: A heterozygous mutation (c.151 G>A) was identified in the PAX6 gene in the proband and other patients from the family. The same mutation was not found among unaffected family members and 160 unrelated healthy controls.

Conclusion: A novel mutation in the PAX6 gene has been identified in a Chinese family affected with aniridia.