Fig. 1

a Pedigree of family 1 with Waardenburg syndrome type 2A with MITF mutation. The black arrow indicates the proband (VI-2). b Iris color of Waardenburg syndrome type 2 patients. VI-1, brilliant blue irises. VI-2, heterochromia iridis, and a blue segment in his left iris. c The DNA sequence chromatogram of exon 8 of the MITF gene with the frameshift mutation c.996delT (p.K334Sfs*15) in heterozygous state in proband )VI-2), proband^’s mother (V-7), and proband^’s sister (VI-1). This mutation was not found in proband^’s father (V-8). The black arrow above the chromatogram sequence shows the c.996delT mutation