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

ABSTRACT

OBJECTIVE@#To identify mutation of the PAX6 gene in a patient with congenital aniridia.@*METHODS@#DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing.@*RESULTS@#The proband was found to harbor a heterozygous c.239T>A (p.Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls.@*CONCLUSION@#A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.