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. 2019 Oct 1;10(10):772.
doi: 10.3390/genes10100772.

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

Chen-Chi Wu  1 , Cheng-Yu Tsai  2   3 , Yi-Hsin Lin  4 , Pey-Yu Chen  5 , Pei-Hsuan Lin  6 , Yen-Fu Cheng  7   8 , Che-Ming Wu  9 , Yin-Hung Lin  10 , Chee-Yee Lee  11 , Jargalkhuu Erdenechuluun  12   13   14 , Tien-Chen Liu  15 , Pei-Lung Chen  16   17 , Chuan-Jen Hsu  18   19
Affiliations

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

Chen-Chi Wu et al. Genes (Basel). .

Abstract

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.

Keywords: deafness; genetic diagnosis; genetic examination; next-generation sequencing; population genomics; precision medicine.

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Conflict of interest statement

Declare conflicts of interest or state.

Figures

Figure 1
Figure 1
Summary of the genetic results in the 5314 Taiwanese families included in this study. The probands of 5184 families received conventional Sanger sequencing of three common deafness genes (i.e., GJB2, SLC26A4, and MTRNR1), and 1291 (24.9%) of them had confirmed diagnosis. Among the remaining 3893 undiagnosed probands, 280 of them further received a second-phase targeted NGS examination, and 86 (30.7%) had confirmed diagnosis. On the other hand, 130 families directly received targeted NGS examination without screening of common deafness gene a priori. Of them, 69 (53.1%) had confirmed diagnosis. NGS, next-generation sequencing.
Figure 2
Figure 2
Allele frequencies of deafness-associated genetic mutations in the Taiwanese families.
See this image and copyright information in PMC

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