A <i>KCNQ4</i> c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population
Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Variants of <i>KCNQ4</i> gene is a common genetic factor of ADNSHL. Few studies have investigated the association between hearing impairment and the variant c.546C>G of <i>KCNQ4<...
Guardado en:
| Autores principales: | , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
MDPI AG
2021
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/28dc68c00be747efabc5e17a65a6a6e1 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:28dc68c00be747efabc5e17a65a6a6e1 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:28dc68c00be747efabc5e17a65a6a6e12021-11-25T17:41:10ZA <i>KCNQ4</i> c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population10.3390/genes121117112073-4425https://doaj.org/article/28dc68c00be747efabc5e17a65a6a6e12021-10-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1711https://doaj.org/toc/2073-4425Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Variants of <i>KCNQ4</i> gene is a common genetic factor of ADNSHL. Few studies have investigated the association between hearing impairment and the variant c.546C>G of <i>KCNQ4</i>. Here, we investigated the phenotype and clinical manifestations of the <i>KCNQ4</i> variant. Study subjects were selected from the participants of the Taiwan Precision Medicine Initiative. In total, we enrolled 12 individuals with <i>KCNQ4</i> 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 <i>KCNQ4</i> c.546C>G variant, aortic aneurysm, fracture of lower limb and polyneuropathy in diabetes. <i>KCNQ4</i> 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.Ting-Ting YenI-Chieh ChenMen-Wei HuaChia-Yi WeiKai-Hsiang ShihJui-Lin LiChing-Heng LinTzu-Hung HsiaoYi-Ming ChenRong-San JiangMDPI AGarticleautosomal dominant nonsyndromic hearing loss<i>KCNQ4</i> c.546C>Gaudiogramspure tone audiometryGeneticsQH426-470ENGenes, Vol 12, Iss 1711, p 1711 (2021) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
autosomal dominant nonsyndromic hearing loss <i>KCNQ4</i> c.546C>G audiograms pure tone audiometry Genetics QH426-470 |
| spellingShingle |
autosomal dominant nonsyndromic hearing loss <i>KCNQ4</i> c.546C>G audiograms pure tone audiometry Genetics QH426-470 Ting-Ting Yen I-Chieh Chen Men-Wei Hua Chia-Yi Wei Kai-Hsiang Shih Jui-Lin Li Ching-Heng Lin Tzu-Hung Hsiao Yi-Ming Chen Rong-San Jiang A <i>KCNQ4</i> c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population |
| description |
Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Variants of <i>KCNQ4</i> gene is a common genetic factor of ADNSHL. Few studies have investigated the association between hearing impairment and the variant c.546C>G of <i>KCNQ4</i>. Here, we investigated the phenotype and clinical manifestations of the <i>KCNQ4</i> variant. Study subjects were selected from the participants of the Taiwan Precision Medicine Initiative. In total, we enrolled 12 individuals with <i>KCNQ4</i> 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 <i>KCNQ4</i> c.546C>G variant, aortic aneurysm, fracture of lower limb and polyneuropathy in diabetes. <i>KCNQ4</i> 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. |
| format |
article |
| author |
Ting-Ting Yen I-Chieh Chen Men-Wei Hua Chia-Yi Wei Kai-Hsiang Shih Jui-Lin Li Ching-Heng Lin Tzu-Hung Hsiao Yi-Ming Chen Rong-San Jiang |
| author_facet |
Ting-Ting Yen I-Chieh Chen Men-Wei Hua Chia-Yi Wei Kai-Hsiang Shih Jui-Lin Li Ching-Heng Lin Tzu-Hung Hsiao Yi-Ming Chen Rong-San Jiang |
| author_sort |
Ting-Ting Yen |
| title |
A <i>KCNQ4</i> c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population |
| title_short |
A <i>KCNQ4</i> c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population |
| title_full |
A <i>KCNQ4</i> c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population |
| title_fullStr |
A <i>KCNQ4</i> c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population |
| title_full_unstemmed |
A <i>KCNQ4</i> c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population |
| title_sort |
<i>kcnq4</i> c.546c>g genetic variant associated with late onset non-syndromic hearing loss in a taiwanese population |
| publisher |
MDPI AG |
| publishDate |
2021 |
| url |
https://doaj.org/article/28dc68c00be747efabc5e17a65a6a6e1 |
| work_keys_str_mv |
AT tingtingyen aikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT ichiehchen aikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT menweihua aikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT chiayiwei aikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT kaihsiangshih aikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT juilinli aikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT chinghenglin aikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT tzuhunghsiao aikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT yimingchen aikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT rongsanjiang aikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT tingtingyen ikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT ichiehchen ikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT menweihua ikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT chiayiwei ikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT kaihsiangshih ikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT juilinli ikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT chinghenglin ikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT tzuhunghsiao ikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT yimingchen ikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation AT rongsanjiang ikcnq4ic546cggeneticvariantassociatedwithlateonsetnonsyndromichearinglossinataiwanesepopulation |
| _version_ |
1718412093483384832 |