Fig. 4

a Pedigree of family 4 with Waardenburg syndrome type 1 with PAX3 mutation. The black arrow indicates the proband (IV-8). b Iris color of Waardenburg syndrome type 1 patient. IV-8, brilliant blue irises. c The DNA sequence chromatogram of exon 7 of the PAX3 gene with the frameshift mutation c.1024_1040del AGCACGATTCCTTCCAA (p.S342Pfs*62) in heterozygous state in proband (IV-8) and proband^’s mother (III-17). This mutation was not detected in proband^’s uncle [mother-side] (III-6). The black arrow above the chromatogram sequence shows the c.1024_1040del AGCACGATTCCTTCCAA mutation