Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.

The mutational spectrum of many genes and their contribution to the global prevalence of hereditary hearing loss is still widely unknown. In this study, we have performed the mutational screening of EYA4 gene by DHLPC and NGS in a large cohort of 531 unrelated Spanish probands and one Australian family with autosomal dominant non-syndromic hearing loss (ADNSHL). In total, 9 novel EYA4 variants have been identified, 3 in the EYA4 variable region (c.

Control of neuronal ploidy during vertebrate development.

Somatic tetraploid neurons are present in different structures of the vertebrate nervous system, including cortex and retina. In this chapter, we provide evidence that these neurons can be widely detected in the chick nervous system. We also discuss mechanisms creating neuronal tetraploidy in vertebrates, concluding that the neurotrophin receptor p75 could be responsible for the generation of these neurons in most neural tissues, as previously observed in the retina.