Research Article
A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss
Figure 3
Sanger sequencing confirmation and structural analysis of c.337C>T. (a) Sequencing results of two members in this family and the representative of 200 ethnicity-matched control subjects. Red arrow points to the position of the heterozygous mutation in POU4F3 gene, c.337C>T. (b) The schematic diagram of POU4F3 protein indicating the loss of POU-specific domain and POU homeodomain in mutant protein. (c) Three-dimensional molecular models revealed the incomplete structure of mutant-type protein.
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