Figure 3. The DNA sequence of a part of the PAX6 gene in the affected patients and unaffected individuals is shown. Case 1 represents a heterozygous AG deletion at nucleotide
375–376 (c.375_376delAG) in exon 7 of the PAX6 gene. This frameshift mutation was predicted to cause a PTC seven codons downstream from the ﬁrst new inappropriate codon
125 created by the nucleotide mutation (p.Arg125SerfsX7). The underlining (“Wild” graph) shows the AG in the normal controls,
which the affected patients lacked (the arrow pointing to in the “Mutant and Heterozygous” graph). Case 2 represents one novel
mutation in exon 10, c.868_871dupAGTT (p.Phe291X); a 4-nucleotide (AGTT) duplication generated a frameshift mutation in exon
10, and this frameshift mutation was predicted to cause a PTC in the codon 291 created by the nucleotide duplication.