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

Figure 4

Amino acid coding diagram for the proband and schematic diagram of the SOX10 gene domain. The red letters indicate the changed amino acids and the site of the stop codon. The mutation caused early termination of the coding sequence. If a deletion mutation occurs in front of the HMG domain, the HMG domain cannot combine with the promoter of the target gene (MITF).