Fig. 2

a Pedigree of family 2 with Waardenburg syndrome type 2A with MITF mutation. The black arrow indicates the proband (III-3). b Iris color of Waardenburg syndrome type 2 patient. III-3, brilliant blue irises. c The DNA sequence chromatogram of exon 8 of the MITF gene with the missense mutation c.950G > A (p.R317K) in heterozygous state in proband )III-3). This mutation was not detected in proband^’s father (II-3) and proband^’s mother (II-2). The black arrow above the chromatogram sequence shows the c.950G > A mutation