Fig. 3

Pedigree and variants in transcription factor genes MAF and PAX6. The schematics show the encoded domain structure of MAF or PAX6, and the variants are illustrated above the schematics. MAF c.950A > G; p.(Glu317Gly) was identified in sporadic case #11 (a). PAX6 c.113G > A p.(Arg38Gln) was identified in family #12 (b). Patients II1 and II2 from family #12 inherited the same PAX6 allele from their unaffected mother. Allele specific PCR demonstrated that the variant was present in the asymptomatic mother. Probands are indicated by arrows. ^+/− indicates heterozygous individuals, ^−/− for individuals testing negative, ^{−/G > A} indicates a mosaic case besides the normal sequence “G” also chromosomes are found containing “A”. WT: Wild Type, MT: Mutant Type