PAX6 Mutations in Aniridia

Abstract

We examined chromosomal anomalies and PAX6 mutations in 8 pedigrees with aniridia. Chromosomal analysis identified deletions at 11p13 region in two sporadic patients. Seven heterozygous mutations of the PAX6 gene were found by polymerase chain reaction single strand conformation polymorphism assay (PCR-SSCP) and sequencing. Three of the mutations occurred in the paired domain (one stop codon, one splice junction error and one frameshift) and one in the proline-serine-threonine-rich domain (one stop codon). Affected members of each family who had the same mutation, showed various phenotypes. Together with clinical features of sporadic cases, there was no correlation between genotype of PAX6 mutations and phenotype of the eye anomalies. These mutations found in the present study, which predict truncated proteins support that aniridia is caused by haploinsufficiency of the PAX6 gene.