{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:32:24Z","timestamp":1761006744454,"version":"build-2065373602"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T00:00:00Z","timestamp":1733961600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["aao-hnsfjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Otolaryngol.--head neck surg."],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To ascertain pathogenic variants frequency and type in the <jats:italic>COCH<\/jats:italic> gene among Cantabrian patients with nonsyndromic hereditary hearing loss (HL), and to understand their cochleovestibular manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design<\/jats:title><jats:p>An observational study on patients with postlingual nonsyndromic sensorineural hearing loss (SNHL), who underwent a genetic study using next\u2010generation sequencing (gene panel) in the otolaryngology clinics between January 2019 and December 2023.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>Referral center Marqu\u00e9s de Valdecilla University Hospital in Santander (Spain).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A cohort of 248 otolaryngologic clinic\u2010referred patients suspected of genetic SNHL underwent sequencing analysis targeting 231 genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A likely pathogenic or pathogenic variant causing HL was found in 57 (22.8%) patients. Among them, 7 (2.8%) were heterozygous carriers of the c.263G&gt;C variant in the LCCL domain of the <jats:italic>COCH<\/jats:italic> gene, included as index cases. Subsequent familial segregation studies were performed. A total of 22 genetically and clinically studied patients were included. All but 3 family members displayed bilateral progressive SNHL starting in adulthood. Thirteen patients reported instability, but none met Meniere's disease criteria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>COCH<\/jats:italic> gene variants are frequent in Cantabria. A variant with pathogenic evidence (c.263G&gt;C in the LCCL domain) was detected. The phenotype observed is similar to a subgroup of patients with other variants described in the same functional domain: progressive SNHL and instability secondary to vestibular hypofunction.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ohn.1074","type":"journal-article","created":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T13:50:49Z","timestamp":1734011449000},"page":"982-992","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Hearing and Vestibular Impairment Related to a Variant (c.263G&gt;C) of the <i>COCH<\/i> Gene"],"prefix":"10.1002","volume":"172","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-9223-2219","authenticated-orcid":false,"given":"Aida Veiga","family":"Alonso","sequence":"first","affiliation":[{"name":"Department of Otolaryngology Marqu\u00e9s de Valdecilla University Hospital Santander 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