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

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2019 Oct 5

PMID 31581539

Citations 22

Authors

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

Affiliations

Soon will be listed here.

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.

Citing Articles

Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.

Jin Y, Liu X, Zhang Q, Xiong Y, Hu Y, He H Biomedicines. 2025; 12(12.

PMID: 39767564 PMC: 11673014. DOI: 10.3390/biomedicines12122657.

Genetic Basis of Hearing Loss in Mongolian Patients: A Next-Generation Sequencing Study.

Gombojav B, Erdenechuluun J, Makhbal Z, Danshiitsoodol N, Purevdorj E, Jargalmaa M Genes (Basel). 2024; 15(9).

PMID: 39336818 PMC: 11431586. DOI: 10.3390/genes15091227.

Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.

Chen H, Hsieh Y, Hsu H, Liu T, Zhang Y, Lin C BMC Med Genomics. 2024; 17(1):155.

PMID: 38840095 PMC: 11155076. DOI: 10.1186/s12920-024-01921-8.

Establishment and application of a reverse dot blot assay for 13 mutations of hearing-loss genes in primary hospitals in China.

Jiang Q, Zhu J, Fan S, Hou Y, Hu X, Shi J Asian Biomed (Res Rev News). 2024; 18(1):11-17.

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Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.

Li Y, Ma H, Wang Q, Liu D, Wang W, Li S BMC Med Genomics. 2024; 17(1):55.

PMID: 38378613 PMC: 10877886. DOI: 10.1186/s12920-024-01829-3.

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