{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T20:27:24Z","timestamp":1781555244618,"version":"3.54.5"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T00:00:00Z","timestamp":1689897600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T00:00:00Z","timestamp":1689897600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur Arch Otorhinolaryngol"],"published-print":{"date-parts":[[2024,2]]},"DOI":"10.1007\/s00405-023-08123-5","type":"journal-article","created":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T14:01:37Z","timestamp":1689948097000},"page":"649-654","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients"],"prefix":"10.1007","volume":"281","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-1285-283X","authenticated-orcid":false,"given":"Kejia","family":"Yu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beibei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,7,21]]},"reference":[{"issue":"3\u20134","key":"8123_CR1","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1007\/s00439-021-02311-1","volume":"141","author":"K Honda","year":"2022","unstructured":"Honda K, Griffith AJ (2022) Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss. Hum Genet 141(3\u20134):455\u2013464. https:\/\/doi.org\/10.1007\/s00439-021-02311-1","journal-title":"Hum Genet"},{"issue":"11","key":"8123_CR2","doi-asserted-by":"publisher","first-page":"4516","DOI":"10.1172\/JCI59353","volume":"121","author":"BY Choi","year":"2011","unstructured":"Choi BY, Kim HM, Ito T et al (2011) Mouse model of enlarged vestibular aqueducts defines temporal requirement of SLC26A4 expression for hearing acquisition. J Clin Invest 121(11):4516\u20134525. https:\/\/doi.org\/10.1172\/JCI59353","journal-title":"J Clin Invest"},{"issue":"17","key":"8123_CR3","doi-asserted-by":"publisher","first-page":"9727","DOI":"10.1073\/pnas.96.17.9727","volume":"96","author":"LA Everett","year":"1999","unstructured":"Everett LA, Morsli H, Wu DK et al (1999) Expression pattern of the mouse ortholog of the Pendred\u2019s syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci 96(17):9727\u20139732. https:\/\/doi.org\/10.1073\/pnas.96.17.9727","journal-title":"Proc Natl Acad Sci"},{"issue":"5","key":"8123_CR4","doi-asserted-by":"publisher","first-page":"F1345","DOI":"10.1152\/-ajprenal.00487.2006","volume":"292","author":"P Wangemann","year":"2007","unstructured":"Wangemann P, Nakaya K, Wu T et al (2007) Loss of cochlear HCO 3 \u2212 secretion causes deafness via endolymphatic acidification and inhibition of Ca 2+ reabsorption in a Pendred syndrome mouse model. Am J Physiol-Renal 292(5):F1345\u2013F1353. https:\/\/doi.org\/10.1152\/-ajprenal.00487.2006","journal-title":"Am J Physiol-Renal"},{"issue":"1","key":"8123_CR5","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1177\/0003489415575060","volume":"124","author":"K Tsukada","year":"2015","unstructured":"Tsukada K, Nishio S, Hattori M et al (2015) Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review. Ann Otol Rhinol Laryngol 124(1):61\u201376. https:\/\/doi.org\/10.1177\/0003489415575060","journal-title":"Ann Otol Rhinol Laryngol"},{"issue":"10","key":"8123_CR6","doi-asserted-by":"publisher","first-page":"1670","DOI":"10.1016\/j.ijporl.2013.07.023","volume":"77","author":"W Du","year":"2013","unstructured":"Du W, Guo Y, Wang C et al (2013) A systematic review and meta-analysis of common mutations of SLC26A4 gene in Asian populations. Int J Pediatr Otorhinolaryngol 77(10):1670\u20131676. https:\/\/doi.org\/10.1016\/j.ijporl.2013.07.023","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"50","key":"8123_CR7","doi-asserted-by":"publisher","first-page":"e2248","DOI":"10.1097\/MD.0000000000002248","volume":"94","author":"YJ Lu","year":"2015","unstructured":"Lu YJ, Yao J, Wei QJ et al (2015) Diagnostic value of SLC26A4 mutation status in hereditary hearing loss with EVA A PRISMA-compliant meta-analysis. Medicine 94(50):e2248. https:\/\/doi.org\/10.1097\/MD.0000000000002248","journal-title":"Medicine"},{"key":"8123_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ijporl.2019.06.012","volume":"125","author":"M Koohiyan","year":"2019","unstructured":"Koohiyan M (2019) A systematic review of SLC26A4 mutations causing hearing loss in the Iranian population. Int J Pediatr Otorhinolaryngol 125:1\u20135. https:\/\/doi.org\/10.1016\/j.ijporl.2019.06.012","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"5","key":"8123_CR9","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1038\/jhg.2014.12","volume":"59","author":"M Miyagawa","year":"2014","unstructured":"Miyagawa M, Nishio S et al (2014) Mutation spectrum and genotype\u2013phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. J Hum Genet 59(5):262\u2013268. https:\/\/doi.org\/10.1038\/jhg.2014.12","journal-title":"J Hum Genet"},{"issue":"12","key":"8123_CR10","doi-asserted-by":"publisher","first-page":"e0168508","DOI":"10.1371\/journa-l.pone.0168508","volume":"11","author":"Y Liu","year":"2016","unstructured":"Liu Y, Wang L, Feng Y et al (2016) A new genetic diagnostic for enlarged vestibular aqueduct based on next-generation sequencing. Plos One 11(12):e0168508. https:\/\/doi.org\/10.1371\/journa-l.pone.0168508","journal-title":"Plos One"},{"issue":"2","key":"8123_CR11","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1111\/j.1399-0004.2004.00386.x","volume":"67","author":"HJ Park","year":"2004","unstructured":"Park HJ, Lee SJ, Jin HS et al (2004) Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans: genetic basis of EVA in Koreans. Clin Genet 67(2):160\u2013165. https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00386.x","journal-title":"Clin Genet"},{"issue":"1","key":"8123_CR12","doi-asserted-by":"publisher","first-page":"50","DOI":"10.21053\/ceo.2018.00213","volume":"12","author":"Y Yu","year":"2019","unstructured":"Yu Y, Yang Y, Lu J et al (2019) Two compound heterozygous were identified in SLC26A4 gene in two Chinese families with enlarged vestibular aqueduct. Clin Exp Otorhinolaryngol 12(1):50\u201357. https:\/\/doi.org\/10.21053\/ceo.2018.00213","journal-title":"Clin Exp Otorhinolaryngol"},{"issue":"6","key":"8123_CR13","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1111\/ahg.12207","volume":"81","author":"J Luo","year":"2017","unstructured":"Luo J, Bai X, Zhang F et al (2017) Prevalence of mutations in deafness-causing genes in cochlear implanted patients with profound nonsyndromic sensorineural hearing loss in Shandong Province, China. Ann Hum Genet 81(6):258\u2013266. https:\/\/doi.org\/10.1111\/ahg.12207","journal-title":"Ann Hum Genet"},{"issue":"11","key":"8123_CR14","doi-asserted-by":"publisher","first-page":"e49984","DOI":"10.1371\/journal.pone.0049984","volume":"7","author":"Y Yuan","year":"2012","unstructured":"Yuan Y, Guo W, Tang J et al (2012) Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. Plos One 7(11):e49984. https:\/\/doi.org\/10.1371\/journal.pone.0049984","journal-title":"Plos One"},{"issue":"1\u20132","key":"8123_CR15","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.heares.2010.08.015","volume":"270","author":"K Ishihara","year":"2010","unstructured":"Ishihara K, Okuyama S, Kumano S et al (2010) Salicylate restores transport function and anion exchanger activity of missense pendrin mutations. Hearing Res 270(1\u20132):110\u2013118. https:\/\/doi.org\/10.1016\/j.heares.2010.08.015","journal-title":"Hearing Res"},{"issue":"8","key":"8123_CR16","doi-asserted-by":"publisher","first-page":"1351","DOI":"10.1016\/j.ijporl.2015.06.009","volume":"79","author":"X Pang","year":"2015","unstructured":"Pang X, Chai Y, Chen P et al (2015) Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol 79(8):1351\u20131353. https:\/\/doi.org\/10.1016\/j.ijporl.2015.06.009","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"1","key":"8123_CR17","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1089\/gtmb.2014.0241","volume":"19","author":"J Qing","year":"2015","unstructured":"Qing J, Zhou Y, Lai R et al (2015) Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China. Genet Test Mol Biomarkers 19(1):52\u201358. https:\/\/doi.org\/10.1089\/gtmb.2014.0241","journal-title":"Genet Test Mol Biomarkers"},{"issue":"3","key":"8123_CR18","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1080\/00016489.2018.1554262","volume":"139","author":"S Wang","year":"2019","unstructured":"Wang S, Ding W, Chen C et al (2019) Analysis between phenotypes and genotypes of inner ear malformation. Acta Oto-Laryngol 139(3):223\u2013232. https:\/\/doi.org\/10.1080\/00016489.2018.1554262","journal-title":"Acta Oto-Laryngol"},{"key":"8123_CR19","doi-asserted-by":"publisher","DOI":"10.1002\/lary.24504","author":"MH Song","year":"2014","unstructured":"Song MH, Shin J, Park H et al (2014) Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations. Laryngoscope. https:\/\/doi.org\/10.1002\/lary.24504","journal-title":"Laryngoscope"},{"issue":"3","key":"8123_CR20","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1111\/cge.12273","volume":"86","author":"HJ Lee","year":"2014","unstructured":"Lee HJ, Jung J, Shin JW et al (2014) Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations: Bi-allelic SLC26A4 mutations in Korean. Clin Gene 86(3):270\u2013275. https:\/\/doi.org\/10.1111\/cge.12273","journal-title":"Clin Gene"}],"container-title":["European Archives of Oto-Rhino-Laryngology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00405-023-08123-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00405-023-08123-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00405-023-08123-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T09:10:54Z","timestamp":1705569054000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00405-023-08123-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,21]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["8123"],"URL":"https:\/\/doi.org\/10.1007\/s00405-023-08123-5","relation":{},"ISSN":["0937-4477","1434-4726"],"issn-type":[{"value":"0937-4477","type":"print"},{"value":"1434-4726","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,21]]},"assertion":[{"value":"2 May 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 July 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 July 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflicts of interest that are relevant to the content of this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was approved by the Ethics Committee of the Second Hospital Affiliated to Zhejiang University School of Medicine (Hangzhou, Zhejiang, China, Approval No. 2013-007).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}