Research Article
Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation
Figure 3
Partial sequence chromatograms, conservation analysis, and schematic illustration of Pou3f4. (a) DNA sequencing profile showing the c.400_401insACTC mutation in POU3F4. The sequence chromatograms were analyzed from PCR products of four family members. The arrow indicates the location of the nucleotide changes. (b) Protein alignment showing conservation of part residues of Pou3f4 across six species. (c) Schematic illustration of Pou3f4 protein labeled with the mutation identified in this study. The mutation introduces frame shift and a premature stop codon at amino acid 194, resulting in the nonfunctional protein without the POUs and POUHD domains.
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