Genetic epidemiology and clinical features of hereditary hearing impairment in the Taiwanese population

Chen Chi Wu, Cheng Yu Tsai, Yi Hsin Lin, Pey Yu Chen, Pei Hsuan Lin, Yen Fu Cheng, Che Ming Wu, Yin Hung Lin, Chee Yee Lee, Jargalkhuu Erdenechuluun, Tien Chen Liu, Pei Lung Chen*, Chuan Jen Hsu

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

33 Scopus citations


Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused by mutations in a plethora of deafness genes. Research over the past few decades has shown that the genetic epidemiology of HHI varies significantly across populations. In this study, we used different genetic examination strategies to address the genetic causes of HHI in a large Taiwanese cohort composed of >5000 hearing-impaired families. We also analyzed the clinical features associated with specific genetic mutations. Our results demonstrated that next-generation sequencing-based examination strategies could achieve genetic diagnosis in approximately half of the families. Common deafness-associated genes in the Taiwanese patients assessed, in the order of prevalence, included GJB2, SLC26A4, OTOF, MYO15A, and MTRNR1, which were similar to those found in other populations. However, the Taiwanese patients had some unique mutations in these genes. These findings may have important clinical implications for refining molecular diagnostics, facilitating genetic counseling, and enabling precision medicine for the management of HHI.

Original languageEnglish
Article number772
Issue number10
StatePublished - 10 2019

Bibliographical note

Publisher Copyright:
© 2019 by the authors. Licensee MDPI, Basel, Switzerland.


  • Deafness
  • Genetic diagnosis
  • Genetic examination
  • Next-generation sequencing
  • Population genomics
  • Precision medicine


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