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Open AccessArticle

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population

1
Department of Otolaryngology, National Taiwan University Hospital, Taipei 10002, Taiwan
2
Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei 10055, Taiwan
3
Department of Otolaryngology, Mackay Memorial Hospital, Taipei 10449, Taiwan
4
Department of Otolaryngology, National Taiwan University Hospital Yunlin Branch, Yunlin 64041, Taiwan
5
Department of Medical Research, Taipei Veterans General Hospital, Taipei 11217, Taiwan
6
Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei 11217, Taiwan
7
Department of Otolaryngology-Head and Neck Surgery, Chang Gung Memorial Hospital, Chang Gung University, Linkou 33302, Taiwan
8
Department of Otolaryngology, Buddhist Tzuchi General Hospital, Taichung Branch, Taichung 42743, Taiwan
9
Department of Otolaryngology, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, Mongolia
10
The EMJJ Otolaryngology Hospital, Ulaanbaatar 14210, Mongolia
11
Department of Otolaryngology, National Center for Maternal and Child Health, Ulaanbaatar 16060, Mongolia
12
Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan
*
Author to whom correspondence should be addressed.
Genes 2019, 10(10), 772; https://doi.org/10.3390/genes10100772
Received: 1 August 2019 / Revised: 19 September 2019 / Accepted: 27 September 2019 / Published: 1 October 2019
(This article belongs to the Special Issue Genetic Epidemiology of Deafness)
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. View Full-Text
Keywords: next-generation sequencing; population genomics; deafness; genetic diagnosis; genetic examination; precision medicine next-generation sequencing; population genomics; deafness; genetic diagnosis; genetic examination; precision medicine
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Wu, C.-C.; Tsai, C.-Y.; Lin, Y.-H.; Chen, P.-Y.; Lin, P.-H.; Cheng, Y.-F.; Wu, C.-M.; Lin, Y.-H.; Lee, C.-Y.; Erdenechuluun, J.; Liu, T.-C.; Chen, P.-L.; Hsu, C.-J. Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population. Genes 2019, 10, 772.

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