{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T00:17:57Z","timestamp":1770423477465,"version":"3.49.0"},"reference-count":48,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,11,22]],"date-time":"2024-11-22T00:00:00Z","timestamp":1732233600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFF0702302"],"award-info":[{"award-number":["2021YFF0702302"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To summarize the <jats:italic>Solute Carrier Family 26 Member 4<\/jats:italic> (<jats:italic>SLC26A4<\/jats:italic>) mutations and clinical phenotypic characteristics of patients with Pendred syndrome\/nonsyndromic enlarged vestibular aqueduct (PS\/NSEVA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>A retrospective cohort study for the Chinese population was performed to analyze the hearing test results of 406 patients with PS\/NSEVA who had a <jats:italic>SLC26A4<\/jats:italic> mutation and the relationship between inner ear imaging and audiology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>There was a significant difference in the mean hearing threshold in patients with biallelic mutations (M2), monoallelic mutations (M1), and nonallelic mutations (M0) and between patients with isolated vestibular aqueduct enlargement (IEVA) and patients with IEVA combined with Mondini malformation. There was no significant difference between patients with different gene mutation types or different sexes, or between the width of the vestibular aqueduct (VA) and the mean hearing threshold. The degree of hearing loss was linearly correlated with age.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We propose that the presence and absence of <jats:italic>SLC26A4<\/jats:italic> mutation, whether combined with Mondini malformation and patient age, are essential factors affecting the degree of hearing loss in the Chinese population. However, the number and type of mutations, degree of VA expansion, and sex of the patients did not affect the clinical audiological phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Level of Evidence<\/jats:title><jats:p>3 <jats:italic>Laryngoscope<\/jats:italic>, 135:848\u2013856, 2025<\/jats:p><\/jats:sec>","DOI":"10.1002\/lary.31752","type":"journal-article","created":{"date-parts":[[2024,11,22]],"date-time":"2024-11-22T12:53:58Z","timestamp":1732280038000},"page":"848-856","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical Phenotypic Characterization of the <scp>SLC26A4<\/scp> Mutation in Pendred Syndrome\/Nonsyndromic Enlarged Vestibular Aqueduct"],"prefix":"10.1002","volume":"135","author":[{"given":"Boxiang","family":"Zhuang","sequence":"first","affiliation":[{"name":"Senior Department of Otolaryngology\u2010Head &amp; Neck Surgery The Sixth Medical Center of PLA General Hospital, PLA Medical School  Beijing China"},{"name":"National Key Laboratory of Hearing and Balance Science  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4723-482X","authenticated-orcid":false,"given":"Haiqiao","family":"Du","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2010Head &amp; Neck Surgery The Sixth Medical Center of PLA General Hospital, PLA Medical School  Beijing China"},{"name":"National Key Laboratory of Hearing and Balance Science  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3811-396X","authenticated-orcid":false,"given":"Chenyu","family":"Chen","sequence":"additional","affiliation":[{"name":"ENT Institute and Department of Otorhinolaryngology Eye &amp; ENT Hospital, Fudan University  Shanghai 200031 China"},{"name":"NHC Key Laboratory of Hearing Medicine Research  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Menghua","family":"Li","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2010Head &amp; Neck Surgery The Sixth Medical Center of PLA General Hospital, PLA Medical School  Beijing China"},{"name":"National Key Laboratory of Hearing and Balance Science  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment  Beijing China"},{"name":"Beijing Friendship Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuoshuo","family":"Kang","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2010Head &amp; Neck Surgery The Sixth Medical Center of PLA General Hospital, PLA Medical School  Beijing China"},{"name":"National Key Laboratory of Hearing and Balance Science  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Wang","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2010Head &amp; Neck Surgery The Sixth Medical Center of PLA General Hospital, PLA Medical School  Beijing China"},{"name":"National Key Laboratory of Hearing and Balance Science  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuwei","family":"Wang","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2010Head &amp; Neck Surgery The Sixth Medical Center of PLA General Hospital, PLA Medical School  Beijing China"},{"name":"National Key Laboratory of Hearing and Balance Science  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiwei","family":"Guo","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2010Head &amp; Neck Surgery The Sixth Medical Center of PLA General Hospital, PLA Medical School  Beijing China"},{"name":"National Key Laboratory of Hearing and Balance Science  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang","family":"Lin","sequence":"additional","affiliation":[{"name":"The First Affiliated Hospital of Fujian Medical University  Fuzhou Fujian China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianan","family":"Li","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2010Head &amp; Neck Surgery The Sixth Medical Center of PLA General Hospital, PLA Medical School  Beijing China"},{"name":"National Key Laboratory of Hearing and Balance Science  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiming","family":"Yang","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2010Head &amp; Neck Surgery The Sixth Medical Center of PLA General Hospital, PLA Medical School  Beijing China"},{"name":"National Key Laboratory of Hearing and Balance Science  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Wang","sequence":"additional","affiliation":[{"name":"Senior Department of Otolaryngology\u2010Head &amp; Neck Surgery The Sixth Medical Center of PLA General Hospital, PLA Medical School  Beijing China"},{"name":"National Key Laboratory of Hearing and Balance Science  Beijing China"},{"name":"National Clinical Research Center for Otolaryngologic Diseases  Beijing China"},{"name":"Beijing Key Lab of Hearing Impairment Prevention and Treatment  Beijing China"},{"name":"Beijing Friendship Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2017.07.042"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2011.05.009"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003641"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.7150\/thno.38032"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2022.03.015"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11386"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.4.8435"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7015-2-30"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-4319"},{"issue":"1","key":"e_1_2_6_11_1","article-title":"Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger","volume":"14","author":"Liu Q","year":"2023","journal-title":"Nat Commun"},{"key":"e_1_2_6_12_1","volume-title":"World Report on Hearing","author":"World Health Organization","year":"2021"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjoto.2005.02.013"},{"issue":"4","key":"e_1_2_6_14_1","first-page":"247","article-title":"The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population","volume":"20","author":"Arcand P","year":"1991","journal-title":"J Otolaryngol"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2022.06.008"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12273"},{"issue":"12","key":"e_1_2_6_17_1","article-title":"Different rates of the SLC26A4\u2010related hearing loss in two indigenous peoples of southern Siberia (Russia)","volume":"11","author":"Danilchenko VY","year":"2021","journal-title":"Diagnostics (Basel)"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.067892"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-020-06333-9"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.20722"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.26418"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.27319"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14020335"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.otohns.2009.07.004"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2010.06.002"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-15198-9"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-020-06050-3"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1086\/518314"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-021-02336-6"},{"issue":"9","key":"e_1_2_6_30_1","first-page":"e259","article-title":"SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss","volume":"54","author":"Franze A","year":"2016","journal-title":"Clin Chem Lab Med"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0575-7"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0000000000002140"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19010209"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104721"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22062789"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.12"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.25079"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2014.02.002"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200307000-00016"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mlg.0000240908.88759.fe"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.otohns.2006.12.011"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.24368"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoto.2016.4522"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232315372"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjoto.2017.06.010"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjoto.2019.03.008"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.24504"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-022-07511-7"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.29742"}],"container-title":["The Laryngoscope"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lary.31752","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T06:03:46Z","timestamp":1736748226000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/lary.31752"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,22]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1002\/lary.31752"],"URL":"https:\/\/doi.org\/10.1002\/lary.31752","archive":["Portico"],"relation":{},"ISSN":["0023-852X","1531-4995"],"issn-type":[{"value":"0023-852X","type":"print"},{"value":"1531-4995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,22]]},"assertion":[{"value":"2024-03-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}