Research Article

Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

Figure 3

Sequencing confirming PAX6 frameshift mutation. Schematic of PAX6 gene shows the location of the NM_000280.4(PAX6):c.565TC>T frameshift mutation and its effect on the coding protein. The Sanger chromatogram traces show transmission of the mutation from father (III-11) to daughter (IV-6) in one branch of the family and absence of the mutation in the unaffected mother (III-10).