Regulatory Mutations in Human Hereditary Deafness

摘要: Moderate to profound deafness is a common sensory deficit that estimated by the World Health Organization affect more than 275 million people worldwide (WHO 2010). The etiology of hearing loss varied and can include environmental noise, physical trauma head, infections, ototoxic compounds, natural aging process. Heritable segregating as Mendelian trait thought constitute but fraction cases; nonetheless, its study has yielded rich information about biology pathophysiology. This chapter critical review gene regulation in auditory system draws upon dissection human hereditary nonsyndromic relevant animal models. body work encompasses mutant alleles transcription factors, promoters, long-range enhancers, microRNAs have been associated with including genes such ESSRB, EYA4, GRHL2, HGF, MIR96, POU3F4, POU4F3. At conclusion this chapter, we speculate how future studies capitalize on new sequencing technologies broaden our knowledge both normal deafness.