The genetic bases for non-syndromic hearing loss among Chinese

Xiao Mei Ouyang, Denise Yan, Hui Jun Yuan, Dai Pu, Li Lin Du, Don Yi Han, Xue Zhong Liu

Research output: Contribution to journalReview articlepeer-review

43 Scopus citations


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 non-syndromic forms of deafness in the Chinese population are caused by defects in a small number of genes. Studies of the genetic epidemiology and molecular genetic features revealed that there is a clear relevance of genes causing deafness in Chinese deaf patients as well as a unique spectrum of common and rare deafness gene mutations in the Chinese population. This review is focused on the genetic aspects of non-syndromic and mitochondrial deafness, in which unique molecular genetic features of hearing impairment have been identified in the Chinese population. The current China population is approximately 1.3 billion. It is estimated that 30 000 infants are born with congenital sensorineural hearing loss each year. Better understanding of the genetic causes of deafness in the Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options.

Original languageEnglish (US)
Pages (from-to)131-140
Number of pages10
JournalJournal of Human Genetics
Issue number3
StatePublished - Mar 2009


  • Allelic spectrum
  • Chinese population
  • Genetics
  • Mutations
  • Non-syndromic hearing loss

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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