A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II

Figure 1

Family pedigree and clinical features of the proband. The (a) pedigree indicates that Family II-1 had a spontaneous heterozygous mutation (SOX10 c.246delC), which is marked black. Family I-1 only carried the mutation of the SLC26A4 gene. (b) The iris heterochromia in both eyes of the proband, which are blue. , , and indicate the distance between the inner canthi, pupils, and outer canthi. WT: wild type.

(a)

(b)