PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

Congenital aniridia is due to deletions and point mutations in the PAX6 gen e. We describe here a case of a mother and her two sons with a syndrome com prising congenital aniridia, ptosis, and slight mental retardation. The son s also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded by polymorphism studies and fluorescence in situ hybrid ization analysis. Mutation screening of the PAX6 gene revealed the presence of a transversion C719A, resulting in the substitution of arginine for ser ine at residue 119. We suggest that this missense mutation is responsible b oth for aniridia and ptosis, and possibly also for the observed cognitive d ysfunction in this family.