Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing. However, recent findings indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in Chinese population are caused by a small number of mutations. This review is focused on syndromic and nonsyndromic deafness as well as on the latest information linking inherited mitochondrial pathologies to a variety of etiologies of sensorineural deafness in Chinese population. Better understanding of the genetic causes of deafness in Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options.
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