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

doi:10.3390/genes12111711

中山醫學大學機構典藏 CSMUIR > 中山醫學大學研究成果 > 期刊論文 > Item 310902500/23761

Please use this identifier to cite or link to this item: https://ir.csmu.edu.tw:8080/ir/handle/310902500/23761

Title:	A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population
Authors:	Yen, TT;Chen, IC;Hua, MW;Wei, CY;Shih, KH;Li, JL;Lin, CH;Hsiao, TH;Chen, YM;Jiang, RS
Keywords:	autosomal dominant nonsyndromic hearing loss; KCNQ4c.546C > G ;audiograms;pure tone audiometry
Date:	2021
Issue Date:	2022-08-05T09:42:27Z (UTC)
Publisher:	MDPI
Abstract:	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.
URI:	http://dx.doi.org/10.3390/genes12111711 https://www.webofscience.com/wos/woscc/full-record/WOS:000727049100001 https://ir.csmu.edu.tw:8080/handle/310902500/23761
Relation:	GENES ,2021,v12,issue 11
Appears in Collections:	[中山醫學大學研究成果] 期刊論文

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