{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T19:10:14Z","timestamp":1757617814380,"version":"3.44.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T00:00:00Z","timestamp":1743638400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T00:00:00Z","timestamp":1743638400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100006365","name":"Universidad de Cantabria","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006365","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur Arch Otorhinolaryngol"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Purpose<\/jats:title>\n            <jats:p>Heterozygous variants of the <jats:italic>KCNQ4<\/jats:italic> gene are associated with isolated sensorineural hearing loss (DFNA2A). This study aimed to determine the frequency and clinical characteristics of pathogenic, likely pathogenic, and uncertain variants in the <jats:italic>KCNQ4<\/jats:italic> gene among patients with sensorineural hearing loss of unknown origin in North Spain.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We conducted a prospective observational study of patients with sensorineural hearing loss of unknown etiology at a tertiary hospital over six years. Next-generation sequencing carried out with a panel of genes was used to identify genetic variants related to both syndromic and non-syndromic hearing loss.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Among 370 patients, seven (1.89%) harbored pathogenic or likely pathogenic variants in the <jats:italic>KCNQ4<\/jats:italic> gene: c.777_778delinsCC, c.626\u00a0T\u2009&gt;\u2009G, and c.778G\u2009&gt;\u2009C. None of these variants had been previously described. One patient also had a variant of uncertain significance (c.419\u00a0T\u2009&gt;\u2009C). All patients exhibited progressive bilateral sensorineural hearing loss, predominantly at high frequencies, with variable onset and severity. None reported dizziness or vertigo. Five patients used hearing aids, and one received a cochlear implant with good results.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>\n              <jats:italic>KCNQ4<\/jats:italic> gene variants are rare in Cantabria, present in less than 2% of patients with sensorineural hearing loss of unknown origin. Although most variants identified in our study had not been previously described, the observed phenotype aligned with the typical presentation: bilateral, progressive sensorineural hearing loss with variable onset and severity. Some patients may benefit from cochlear implants.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s00405-025-09288-x","type":"journal-article","created":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T02:52:43Z","timestamp":1743821563000},"page":"3587-3593","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hearing loss secondary to novel variants of the KCNQ4 gene"],"prefix":"10.1007","volume":"282","author":[{"given":"Roc\u00edo","family":"Gonz\u00e1lez-Aguado","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Fern\u00e1ndez-Ense\u00f1at","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Onecha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4268-2762","authenticated-orcid":false,"given":"Carmelo","family":"Morales-Angulo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,4,3]]},"reference":[{"key":"9288_CR1","doi-asserted-by":"publisher","first-page":"4333","DOI":"10.1073\/pnas.97.8.4333","volume":"97","author":"T Kharkovets","year":"2000","unstructured":"Kharkovets T, Hardelin JP, Safieddine S et al (2000) KCNQ4, a K + channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway. 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