PAX6 gene sequencing was performed on all seven patients in this study, and three unaffected family members A novel frameshift mutation from a single nucleotide deletion (NM_000280.4(PAX6):c.565TC>T) was found to perfectly segregate in all seven patients with aniridia and was absent in family members without aniridia (Figure 3). This evidence concerns the gene PAX6 and aniridia.