Study of responsible genes for cochlea and cochlear nerve dysplasia

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Cochlea dysplasia and the associated feature, cochlear nerve dysplasia have been difficult to provide clinical treatment, while the cause of the diseases is largely unknown. We conducted whole exome analysis of the families associated with these symptoms by Next Generation Sequencer and identified 2 novel candidate responsible genes. A candidate gene X appeared to be expressed in cochlear nerve, and was suggested to associate with neurite extension in our immunohistochemical and in vitro studies. The other candidate gene Y has already been shown to have significant role in inner ear development in mouse model, and was finally suggested to cause cochlea dysplasia in human in this study. Our results expanded our understanding of molecular pathology of cochlea and cochlear nerve dysplasia and will lead to development of better diagnosis and treatment.