{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:12:15Z","timestamp":1790795535941,"version":"4.1.0"},"reference-count":57,"publisher":"American Medical Association (AMA)","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Otolaryngol Head Neck Surg"],"published-print":{"date-parts":[[2025,11,1]]},"abstract":"<jats:sec id=\"ab-ooi250061-4\">\n                    <jats:title>Importance<\/jats:title>\n                    <jats:p>Enlarged vestibular aqueduct (EVA), the most prevalent inner ear malformation causing hearing loss (HL) in various populations, is predominantly genetically mediated. Despite advancements in genetic diagnostics, the comprehensive phenotypic and genotypic spectrum of EVA remains insufficiently characterized.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-ooi250061-5\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To characterize the natural history, clinical outcomes, phenotype, and genotype of EVA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-ooi250061-6\">\n                    <jats:title>Design, Setting, and Participants<\/jats:title>\n                    <jats:p>This single-center, longitudinal, retrospective cohort study was conducted from March 2003 to October 2022, with follow-up until July 1, 2024. Patients with EVA who were seeking medical advice at the Chinese PLA General Hospital were included.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-ooi250061-7\">\n                    <jats:title>Main Outcomes and Measures<\/jats:title>\n                    <jats:p>This study presents a 21-year longitudinal analysis of Chinese patients with EVA, providing a systematic analysis of the natural history, phenotypic diversity, and molecular etiology of EVA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-ooi250061-8\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of 2774 patients, 1453 (52.4%) were female individuals, and the median (range) age was 8 (4 months to 45 years) years. This study identified that 124 of 341 patients (36.36%) with EVA received passing newborn hearing screening results, while 375 of 597 (62.8%) received a diagnosis through combined audiological and radiological assessments. Recurrent vertigo (256 of 597 [42.9%]) and goiter (38 of 597 [6.4%]) were common comorbidities. Genetic analysis revealed that 2661 of 2774 patients (95.9%) carried biallelic\n                      <jats:italic>SLC26A4<\/jats:italic>\n                      variants, with 70 (2.5%) attributable to copy number variants and 13 (0.5%) to a deep-intronic variant (c.304\u2009+\u2009941C&amp;amp;gt;T) that affected splicing. A de novo heterozygous\n                      <jats:italic>FOXI1<\/jats:italic>\n                      variant (c.483_485delCAA) was identified in an EVA family, indicating an autosomal dominant inheritance pattern. A stepped genomic analysis strategy was associated with an improved molecular diagnosis rate of 95.9%, highlighting the necessity of comprehensive genetic testing beyond traditional coding regions.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-ooi250061-9\">\n                    <jats:title>Conclusions and Relevance<\/jats:title>\n                    <jats:p>The results of this cohort study underscore the importance of periodic hearing surveillance and tailored genetic counseling for patients with EVA, offering substantial implications for prevention, management, and future gene therapy approaches. This study provides an extensive phenotypic and genotypic characterization of EVA, potentially advancing an understanding of its molecular underpinnings and clinical heterogeneity.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1001\/jamaoto.2025.2866","type":"journal-article","created":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T15:00:27Z","timestamp":1760022027000},"page":"1046","source":"Crossref","is-referenced-by-count":6,"title":["Reevaluation of Enlarged Vestibular Aqueduct"],"prefix":"10.1001","volume":"151","author":[{"given":"Shasha","family":"Huang","sequence":"first","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Jiang","sequence":"additional","affiliation":[{"name":"West China Xiamen Hospital of Sichuan University, Xiamen, Fujian, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, the First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoge","family":"Li","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guojian","family":"Wang","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingyu","family":"Han","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suyan","family":"Yang","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiuquan","family":"Wang","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaoyue","family":"Zhao","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinyuan","family":"Yang","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongyang","family":"Kang","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pu","family":"Dai","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongyi","family":"Yuan","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2013Head and Neck Surgery, 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China"},{"name":"State Key Laboratory of Hearing and Balance Science, Beijing, China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases, Beijing, China"},{"name":"Key Laboratory of Hearing Science, Ministry of Education, Beijing, China"},{"name":"Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"key":"ooi250061r1","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1016\/j.ijporl.2017.04.002","article-title":"High prevalence of abnormalities on CT and MR imaging in children with unilateral sensorineural hearing loss irrespective of age or degree of hearing loss.","volume":"97","author":"van Beeck Calkoen","year":"2017","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"7","key":"ooi250061r2","doi-asserted-by":"publisher","first-page":"2305","DOI":"10.1007\/s00405-020-06333-9","article-title":"Enlarged vestibular aqueduct and Mondini malformation: audiological, clinical, radiologic and genetic features.","volume":"278","author":"Forli","year":"2021","journal-title":"Eur Arch Otorhinolaryngol"},{"issue":"11","key":"ooi250061r3","doi-asserted-by":"publisher","first-page":"2574","DOI":"10.1002\/lary.27319","article-title":"Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.","volume":"129","author":"Mey","year":"2019","journal-title":"Laryngoscope"},{"issue":"2","key":"ooi250061r4","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1002\/lary.20722","article-title":"SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.","volume":"120","author":"King","year":"2010","journal-title":"Laryngoscope"},{"key":"ooi250061r5","article-title":"Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.","author":"Yuan","year":"2019","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"ooi250061r6","first-page":"306","article-title":"Hearing loss with cochlear modiolar defects and large vestibular aqueducts.","volume":"19","author":"Antonelli","year":"1998","journal-title":"Am J Otol"},{"issue":"4","key":"ooi250061r7","first-page":"285","article-title":"Large vestibular aqueduct syndrome: an overlooked etiology for progressive childhood hearing loss.","volume":"9","author":"Callison","year":"1998","journal-title":"J Am Acad Audiol"},{"issue":"5","key":"ooi250061r8","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1016\/j.ajhg.2009.04.014","article-title":"Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.","volume":"84","author":"Yang","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"5","key":"ooi250061r9","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1007\/s00439-007-0415-2","article-title":"Genotype-phenotype correlations for SLC26A4-related deafness.","volume":"122","author":"Azaiez","year":"2007","journal-title":"Hum Genet"},{"issue":"3","key":"ooi250061r10","doi-asserted-by":"publisher","first-page":"423","DOI":"10.3390\/audiolres11030040","article-title":"Genetic determinants of non-syndromic enlarged vestibular aqueduct: a review.","volume":"11","author":"Roesch","year":"2021","journal-title":"Audiol Res"},{"issue":"4","key":"ooi250061r11","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1136\/jmg.40.4.242","article-title":"Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.","volume":"40","author":"Park","year":"2003","journal-title":"J Med Genet"},{"issue":"4","key":"ooi250061r12","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1046\/j.1365-2273.2003.00700.x","article-title":"Genetic screening for hearing loss.","volume":"28","author":"Hone","year":"2003","journal-title":"Clin Otolaryngol Allied Sci"},{"issue":"1","key":"ooi250061r13","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1016\/j.jmoldx.2018.08.007","article-title":"Targeted next-generation sequencing facilitates genetic diagnosis and provides novel pathogenetic insights into deafness with enlarged vestibular aqueduct.","volume":"21","author":"Lin","year":"2019","journal-title":"J Mol Diagn"},{"issue":"1","key":"ooi250061r14","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1186\/1479-5876-9-167","article-title":"Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.","volume":"9","author":"Huang","year":"2011","journal-title":"J Transl Med"},{"issue":"5","key":"ooi250061r15","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1038\/jhg.2014.12","article-title":"Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.","volume":"59","author":"Miyagawa","year":"2014","journal-title":"J Hum Genet"},{"issue":"5","key":"ooi250061r16","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1089\/gtmb.2009.0054","article-title":"Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.","volume":"13","author":"Choi","year":"2009","journal-title":"Genet Test Mol Biomarkers"},{"issue":"6","key":"ooi250061r17","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1038\/sj.ejhg.5201611","article-title":"SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.","volume":"14","author":"Albert","year":"2006","journal-title":"Eur J Hum Genet"},{"issue":"6","key":"ooi250061r18","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1086\/518314","article-title":"Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).","volume":"80","author":"Yang","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"1","key":"ooi250061r19","doi-asserted-by":"publisher","first-page":"1343","DOI":"10.1038\/s41467-020-15198-9","article-title":"Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.","volume":"11","author":"Li","year":"2020","journal-title":"Nat Commun"},{"issue":"11","key":"ooi250061r20","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0108134","article-title":"KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.","volume":"9","author":"Zhao","year":"2014","journal-title":"PLoS One"},{"issue":"5","key":"ooi250061r21","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1002\/lary.1978.88.5.723","article-title":"The large vestibular aqueduct syndrome.","volume":"88","author":"Valvassori","year":"1978","journal-title":"Laryngoscope"},{"key":"ooi250061r23","doi-asserted-by":"publisher","DOI":"10.1155\/2020\/8841522","article-title":"Hearing phenotypes of patients with hearing loss homozygous for the GJB2 c.235delc mutation.","volume":"2020","author":"Guo","year":"2020","journal-title":"Neural Plast"},{"issue":"3","key":"ooi250061r24","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1097\/00003446-200506000-00011","article-title":"Audiological features of GJB2 (connexin 26) deafness.","volume":"26","author":"Liu","year":"2005","journal-title":"Ear Hear"},{"key":"ooi250061r25","first-page":"312","article-title":"Categories of auditory performance.","volume":"166","author":"Archbold","year":"1995","journal-title":"Ann Otol Rhinol Laryngol Suppl"},{"issue":"1","key":"ooi250061r26","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1097\/MAO.0000000000003365","article-title":"Audiological features in 63 patients with cochlear nerve defciency.","volume":"43","author":"Matsuura","year":"2022","journal-title":"Otol Neurotol"},{"issue":"2 Pt 1","key":"ooi250061r27","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1097\/00005537-199902000-00002","article-title":"Cochlear implantation in auditory neuropathy.","volume":"109","author":"Miyamoto","year":"1999","journal-title":"Laryngoscope"},{"issue":"6","key":"ooi250061r28","first-page":"449","article-title":"[Sequencing analysis of whole SLC26A4 gene related to IVS7-2A &gt; G mutation in 1552 moderate to profound sensorineural hearing loss patients in China].","volume":"44","author":"Yuan","year":"2009","journal-title":"Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi"},{"issue":"6","key":"ooi250061r29","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1080\/00016489.2019.1603397","article-title":"Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases.","volume":"139","author":"Li","year":"2019","journal-title":"Acta Otolaryngol"},{"issue":"5","key":"ooi250061r30","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"11","key":"ooi250061r31","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1002\/humu.23630","article-title":"Expert specification of the ACMG\/AMP variant interpretation guidelines for genetic hearing loss.","volume":"39","author":"Oza","year":"2018","journal-title":"Hum Mutat"},{"issue":"6","key":"ooi250061r32","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1001\/jamaoto.2016.4522","article-title":"Vestibular aqueduct midpoint width and hearing loss in patients with an enlarged vestibular aqueduct.","volume":"143","author":"Ascha","year":"2017","journal-title":"JAMA Otolaryngol Head Neck Surg"},{"issue":"5","key":"ooi250061r33","doi-asserted-by":"publisher","first-page":"e563","DOI":"10.1097\/MAO.0000000000003518","article-title":"Enlarged vestibular aqueduct: disease characterization and exploration of potential prognostic factors for cochlear implantation.","volume":"43","author":"Saeed","year":"2022","journal-title":"Otol Neurotol"},{"issue":"3","key":"ooi250061r34","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1097\/AUD.0000000000001309","article-title":"Cochlear implantation in children with enlarged vestibular aqueduct: a systematic review of surgical implications and outcomes.","volume":"44","author":"Hansen","year":"2023","journal-title":"Ear Hear"},{"issue":"6","key":"ooi250061r35","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjoto.2021.103087","article-title":"Cochlear implantation in patients with Pendred syndrome.","volume":"42","author":"Patterson","year":"2021","journal-title":"Am J Otolaryngol"},{"issue":"1","key":"ooi250061r36","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.anl.2016.04.012","article-title":"A nationwide study on enlargement of the vestibular aqueduct in Japan.","volume":"44","author":"Noguchi","year":"2017","journal-title":"Auris Nasus Larynx"},{"key":"ooi250061r37","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1016\/j.ijporl.2018.12.023","article-title":"Hearing loss in unilateral and bilateral enlarged vestibular aqueduct syndrome.","volume":"118","author":"Archibald","year":"2019","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"9","key":"ooi250061r38","doi-asserted-by":"publisher","first-page":"907","DOI":"10.1001\/jamaoto.2013.4185","article-title":"Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.","volume":"139","author":"Chattaraj","year":"2013","journal-title":"JAMA Otolaryngol Head Neck Surg"},{"issue":"6","key":"ooi250061r39","doi-asserted-by":"publisher","first-page":"1537","DOI":"10.1002\/lary.23889","article-title":"Significance of unilateral enlarged vestibular aqueduct.","volume":"123","author":"Greinwald","year":"2013","journal-title":"Laryngoscope"},{"key":"ooi250061r40","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.ijporl.2019.01.034","article-title":"Audiometric findings in children with unilateral enlarged vestibular aqueduct.","volume":"120","author":"Macielak","year":"2019","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"10","key":"ooi250061r41","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1001\/archotol.130.10.1169","article-title":"Audiometric findings in children with a large vestibular aqueduct.","volume":"130","author":"Arjmand","year":"2004","journal-title":"Arch Otolaryngol Head Neck Surg"},{"issue":"12","key":"ooi250061r42","doi-asserted-by":"publisher","first-page":"1238","DOI":"10.1288\/00005537-198912000-00006","article-title":"The large vestibular aqueduct syndrome.","volume":"99","author":"Jackler","year":"1989","journal-title":"Laryngoscope"},{"issue":"8","key":"ooi250061r43","doi-asserted-by":"publisher","first-page":"E286","DOI":"10.1002\/lary.25786","article-title":"Early deterioration of residual hearing in patients with SLC26A4 mutations.","volume":"126","author":"Kim","year":"2016","journal-title":"Laryngoscope"},{"issue":"3","key":"ooi250061r44","doi-asserted-by":"publisher","first-page":"e178","DOI":"10.1097\/MAO.0000000000002140","article-title":"The natural history of hearing loss in Pendred syndrome and non-syndromic enlarged vestibular aqueduct.","volume":"40","author":"Mey","year":"2019","journal-title":"Otol Neurotol"},{"issue":"9","key":"ooi250061r45","doi-asserted-by":"publisher","first-page":"1464","DOI":"10.1097\/MAO.0b013e318232e370","article-title":"Clinical, audiometric, radiologic, and genetic profiles of Southeast Asian children with hearing loss due to enlarged vestibular aqueduct.","volume":"32","author":"Lim","year":"2011","journal-title":"Otol Neurotol"},{"issue":"6","key":"ooi250061r46","doi-asserted-by":"publisher","first-page":"E216","DOI":"10.1002\/lary.25079","article-title":"Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes.","volume":"125","author":"Rah","year":"2015","journal-title":"Laryngoscope"},{"issue":"7","key":"ooi250061r47","doi-asserted-by":"publisher","first-page":"E238","DOI":"10.1002\/lary.26418","article-title":"Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.","volume":"127","author":"Rose","year":"2017","journal-title":"Laryngoscope"},{"issue":"2","key":"ooi250061r48","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1001\/archotol.133.2.162","article-title":"The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct.","volume":"133","author":"Madden","year":"2007","journal-title":"Arch Otolaryngol Head Neck Surg"},{"issue":"1","key":"ooi250061r49","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1159\/000231567","article-title":"Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.","volume":"15","author":"Wu","year":"2010","journal-title":"Audiol Neurootol"},{"issue":"6","key":"ooi250061r51","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1177\/0194599812439670","article-title":"Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.","volume":"146","author":"Chen","year":"2012","journal-title":"Otolaryngol Head Neck Surg"},{"issue":"2","key":"ooi250061r52","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1001\/archotol.133.2.162","article-title":"The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct.","volume":"133","author":"Madden","year":"2007","journal-title":"Arch Otolaryngol Head Neck Surg"},{"issue":"4","key":"ooi250061r53","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1038\/3850","article-title":"The winged helix transcription factor Fkh10 is required for normal development of the inner ear.","volume":"20","author":"Hulander","year":"1998","journal-title":"Nat Genet"},{"issue":"9","key":"ooi250061r54","doi-asserted-by":"publisher","first-page":"2013","DOI":"10.1242\/dev.00376","article-title":"Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice.","volume":"130","author":"Hulander","year":"2003","journal-title":"Development"},{"issue":"12","key":"ooi250061r55","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0168508","article-title":"A new genetic diagnostic for enlarged vestibular aqueduct based on next-generation sequencing.","volume":"11","author":"Liu","year":"2016","journal-title":"PLoS One"},{"issue":"3-4","key":"ooi250061r56","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1007\/s00439-021-02336-6","article-title":"Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.","volume":"141","author":"Smits","year":"2022","journal-title":"Hum Genet"},{"issue":"10","key":"ooi250061r57","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1136\/jmedgenet-2017-104721","article-title":"A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.","volume":"54","author":"Chattaraj","year":"2017","journal-title":"J Med Genet"},{"key":"ooi250061r22","unstructured":"World Health Organization. World report on hearing. Accessed April 17, 2025. https:\/\/www.who.int\/publications\/i\/item\/9789240020481"},{"key":"ooi250061r50","unstructured":"Molecular Otolaryngology & Renal Research Laboratories. Deafness Variation Database. Accessed April 17, 2025. https:\/\/deafnessvariationdatabase.org\/"}],"container-title":["JAMA Otolaryngology\u2013Head &amp; Neck Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamaotolaryngology\/articlepdf\/2839811\/jamaotolaryngology_huang_2025_oi_250061_1762868490.35615.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T16:00:49Z","timestamp":1763049649000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamaotolaryngology\/fullarticle\/2839811"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,1]]},"references-count":57,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamaoto.2025.2866","relation":{},"ISSN":["2168-6181"],"issn-type":[{"value":"2168-6181","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11,1]]}}}