Figure 2

Heterozygous mutations in the KIF21A and PAX6. (A) A C to T change at 2860 nt in exon 21 of the KIF21A resulting in Arginine (A) at condon 954 substituted by Tryptophan (W); (B) A 1-bp deletion in exon11 of PAX6 gene was detected by cloning sequencing, which resulted in a frameshift mutation (p.Leu249TyrfsX22).