Fig. 3.

Genetic testing of case 3 A: Chromatogram of the patient showing the c.781C > G missense mutation in PAX6. B: Missense mutation, p.Arg261Gly (R261G; denoted by ˆ), in the α9 helix of the human PAX6 DNA-binding homeodomain (HD). Amino acid sequence alignments from several vertebrate species in the region of the missense mutation is at the bottom. The numbers refer to amino acid positions for human PAX6. Abbreviations: Chk, chicken; Gor, gorilla; Hu, human; M, mouse; XL, Xenopus leavis (frog); Zf, zebrafish.