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Fig. 3 | BMC Pediatrics

Fig. 3

From: Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report

Fig. 3

a Pedigree of family 3 with PCWH (Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease) with SOX10 mutation. The black arrow indicates the proband (III-2). b Iris color of PCWH patient. III-2, brilliant blue irises. c The DNA sequence chromatogram of exon 3 of the SOX10 gene with the frameshift mutation c.684delC (p.E229Sfs*57) in heterozygous state in proband )III-2). This mutation was not observed in proband’s father (II-4) and proband’s mother (II-3). The black arrow above the chromatogram sequence shows the c.684delC mutation

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