Figure 2. Deletion mutations detected in PAX6. One known (c.112delC) and two novel (c.242delC and c.249delT) deletions were identified in three unrelated families with aniridia. A–C: Pedigrees of the families as well as sequencing chromatograms from probands with aniridia, and corresponding sequences from normal controls. The asterisks indicate the individuals whose DNA samples were available for genetic analysis. The arrows in the chromatograms indicate the position of the deletion.