Figure 4. Nonsense mutation (c.718C>T) in the families and in the sporadic patient in northeastern China. DNA sequence of a part of PAX6 in the affected patients and unaffected individuals. The wild shows the corresponding normal sequence from the unaffected families and the normal controls. The mutant presents mutation sequence in two patients of the family and in the sporadic patient as confirmed by sense and antisense strands. It is a nonsense mutation(c.718 C>T) in exon 9.