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Article

A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population

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Department of Otolaryngology, Taichung Veterans General Hospital, Taichung 40705, Taiwan
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School of Medicine, National Yang Ming Chiao Tung University, Taipei 11221, Taiwan
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Department of Medical Research, Taichung Veterans General Hospital, Taichung 40705, Taiwan
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Department of Health Care Management, National Taipei University of Nursing and Health Sciences, Taipei 108306, Taiwan
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Department of Industrial Engineering and Enterprise Information, Tunghai University, Taichung 40704, Taiwan
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Department of Public Health, College of Medicine, Fu Jen Catholic University, New Taipei City 242062, Taiwan
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Institute of Public Health and Community Medicine Research Center, National Yang Ming Chiao Tung University, Taipei 11221, Taiwan
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Institute of Genomics and Bioinformatics, National Chung Hsing University, Taichung 402202, Taiwan
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Division of Allergy, Immunology and Rheumatology, Taichung Veterans General Hospital, Taichung 40705, Taiwan
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Rong Hsing Research Center for Translational Medicine & Ph.D. Program in Translational Medicine, Taichung 402202, Taiwan
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College of Medicine, National Chung Hsing University, Taichung 402202, Taiwan
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School of Medicine, Chung Shan Medical University, Taichung 40201, Taiwan
*
Authors to whom correspondence should be addressed.
Academic Editor: William Newman
Genes 2021, 12(11), 1711; https://doi.org/10.3390/genes12111711
Received: 20 September 2021 / Revised: 18 October 2021 / Accepted: 26 October 2021 / Published: 27 October 2021
(This article belongs to the Section Human Genomics and Genetic Diseases)
Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Variants of KCNQ4 gene is a common genetic factor of ADNSHL. Few studies have investigated the association between hearing impairment and the variant c.546C>G of KCNQ4. Here, we investigated the phenotype and clinical manifestations of the KCNQ4 variant. Study subjects were selected from the participants of the Taiwan Precision Medicine Initiative. In total, we enrolled 12 individuals with KCNQ4 c.546C>G carriers and 107 non-carriers, and performed pure tone audiometry (PTA) test and phenome-wide association (PheWAS) analysis for the patients. We found that c.546C>G variant was related to an increased risk of hearing loss. All patients with c.546C>G variant were aged >65 years and had sensorineural and high frequency hearing loss. Of these patients, a third (66.7%) showed moderate and progressive hearing loss, 41.7% complained of tinnitus and 16.7% complained of vertigo. Additionally, we found a significant association between KCNQ4 c.546C>G variant, aortic aneurysm, fracture of lower limb and polyneuropathy in diabetes. KCNQ4 c.546C>G is likely a potentially pathogenic variant of ADNSHL in the elderly population. Genetic counseling, annual audiogram and early assistive listening device intervention are highly recommended to prevent profound hearing impairment in this patient group. View Full-Text
Keywords: autosomal dominant nonsyndromic hearing loss; KCNQ4 c.546C>G; audiograms; pure tone audiometry autosomal dominant nonsyndromic hearing loss; KCNQ4 c.546C>G; audiograms; pure tone audiometry
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MDPI and ACS Style

Yen, T.-T.; Chen, I.-C.; Hua, M.-W.; Wei, C.-Y.; Shih, K.-H.; Li, J.-L.; Lin, C.-H.; Hsiao, T.-H.; Chen, Y.-M.; Jiang, R.-S. A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population. Genes 2021, 12, 1711. https://doi.org/10.3390/genes12111711

AMA Style

Yen T-T, Chen I-C, Hua M-W, Wei C-Y, Shih K-H, Li J-L, Lin C-H, Hsiao T-H, Chen Y-M, Jiang R-S. A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population. Genes. 2021; 12(11):1711. https://doi.org/10.3390/genes12111711

Chicago/Turabian Style

Yen, Ting-Ting, I-Chieh Chen, Men-Wei Hua, Chia-Yi Wei, Kai-Hsiang Shih, Jui-Lin Li, Ching-Heng Lin, Tzu-Hung Hsiao, Yi-Ming Chen, and Rong-San Jiang. 2021. "A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population" Genes 12, no. 11: 1711. https://doi.org/10.3390/genes12111711

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