Figure 1. Duplication/insertion mutations detected in PAX6. Five novel duplication/insertion mutations were identified in five probands with aniridia from unrelated families. The mutations
were named according to the nomenclature recommended by the Human Genomic Variation Society (HGVS). Pedigrees (left) are accompanied
by mutant and normal control chromatograms (right) of PAX6. Arrows in pedigrees indicate the probands. The asterisks indicate the individuals whose DNA samples were available for genetic
analysis. The exact mutations in chromatograms are indicated by the arrows.