{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T21:04:13Z","timestamp":1788123853909,"version":"build-2803163510"},"reference-count":72,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,12,17]],"date-time":"2021-12-17T00:00:00Z","timestamp":1639699200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Ministry of Education and Science of Russian Federation","award":["#2019-0546\/FSUS-2020-0040"],"award-info":[{"award-number":["#2019-0546\/FSUS-2020-0040"]}]},{"name":"the Ministry of Education and Science of Russian Federation","award":["#FSRG-2020-0016"],"award-info":[{"award-number":["#FSRG-2020-0016"]}]},{"name":"the Budget Projects of Institute of Cytology and Genetics SB RAS","award":["#AAAA-A19-119100990053-4"],"award-info":[{"award-number":["#AAAA-A19-119100990053-4"]}]},{"name":"the Budget Projects of Institute of Cytology and Genetics SB RAS","award":["#0259-2021-0014"],"award-info":[{"award-number":["#0259-2021-0014"]}]},{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["#17-29-06016_ofi_m"],"award-info":[{"award-number":["#17-29-06016_ofi_m"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["#20-105-00328_A"],"award-info":[{"award-number":["#20-105-00328_A"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Hereditary hearing loss (HL) is known to be highly locus\/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local healthcare and medical genetic services. Mutations in the SLC26A4 gene leading to nonsyndromic recessive deafness (DFNB4) and Pendred syndrome are common genetic causes of hereditary HL, at least in some Asian populations. We present for the first time the results of a thorough analysis of the SLC26A4 gene by Sanger sequencing in the large cohorts of patients with HL of unknown etiology belonging to two neighboring indigenous Turkic-speaking Siberian peoples (Tuvinians and Altaians). A definite genetic diagnosis based on the presence of biallelic SLC26A4 mutations was established for 28.2% (62\/220) of all enrolled Tuvinian patients vs. 4.3% (4\/93) of Altaian patients. The rate of the SLC26A4-related HL in Tuvinian patients appeared to be one of the highest among populations worldwide. The SLC26A4 mutational spectrum was characterized by the presence of Asian-specific mutations c.919-2A&gt;G and c.2027T&gt;A (p.Leu676Gln), predominantly found in Tuvinian patients, and c.2168A&gt;G (p.His723Arg), which was only detected in Altaian patients. In addition, a novel pathogenic variant c.1545T&gt;G (p.Phe515Leu) was found with high frequency in Tuvinian patients. Overall, based on the findings of this study and our previous research, we were able to uncover the genetic causes of HL in 50.5% of Tuvinian patients and 34.5% of Altaian patients.<\/jats:p>","DOI":"10.3390\/diagnostics11122378","type":"journal-article","created":{"date-parts":[[2021,12,19]],"date-time":"2021-12-19T20:41:55Z","timestamp":1639946515000},"page":"2378","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)"],"prefix":"10.3390","volume":"11","author":[{"given":"Valeriia Yu.","family":"Danilchenko","sequence":"first","affiliation":[{"name":"Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"},{"name":"Novosibirsk State University, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1219-9881","authenticated-orcid":false,"given":"Marina V.","family":"Zytsar","sequence":"additional","affiliation":[{"name":"Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5079-9787","authenticated-orcid":false,"given":"Ekaterina A.","family":"Maslova","sequence":"additional","affiliation":[{"name":"Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"},{"name":"Novosibirsk State University, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marita S.","family":"Bady-Khoo","sequence":"additional","affiliation":[{"name":"Perinatal Center of the Republic of Tyva, 667000 Kyzyl, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6984-7934","authenticated-orcid":false,"given":"Nikolay A.","family":"Barashkov","sequence":"additional","affiliation":[{"name":"Yakut Scientific Centre of Complex Medical Problems, 677019 Yakutsk, Russia"},{"name":"M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0307-4203","authenticated-orcid":false,"given":"Igor V.","family":"Morozov","sequence":"additional","affiliation":[{"name":"Novosibirsk State University, 630090 Novosibirsk, Russia"},{"name":"Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9181-0487","authenticated-orcid":false,"given":"Alexander A.","family":"Bondar","sequence":"additional","affiliation":[{"name":"Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1352-3591","authenticated-orcid":false,"given":"Olga L.","family":"Posukh","sequence":"additional","affiliation":[{"name":"Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia"},{"name":"Novosibirsk State University, 630090 Novosibirsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,17]]},"reference":[{"key":"ref_1","unstructured":"(2021, April 01). World Health Organization. Available online: https:\/\/www.who.int\/en\/news-room\/fact-sheets\/detail\/deafness-and-hearing-loss."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn Hearing Screening\u2014A Silent Revolution","volume":"354","author":"Morton","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"ref_3","unstructured":"Van Camp, G., and Smith, R.J.H. (2021, October 04). Hereditary Hearing Loss Homepage. Available online: https:\/\/hereditaryhearingloss.org."},{"key":"ref_4","unstructured":"(2021, November 01). MITOMAP: A Human Mitochondrial Genome Database. Available online: http:\/\/www.mitomap.org."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"428","DOI":"10.3389\/fnmol.2017.00428","article-title":"DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes","volume":"10","year":"2017","journal-title":"Front. Mol. Neurosci."},{"key":"ref_6","doi-asserted-by":"crossref","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."},{"key":"ref_7","doi-asserted-by":"crossref","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."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/j.1399-0004.2007.00862.x","article-title":"A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China","volume":"72","author":"Wang","year":"2007","journal-title":"Clin. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.mrrev.2008.08.002","article-title":"Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?","volume":"681","author":"Hilgert","year":"2009","journal-title":"Mutat. Res."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/jhg.2014.12","article-title":"Deafness Gene Study Consortium. 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."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"61S","DOI":"10.1177\/0003489415575060","article-title":"Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: Their origin and a literature review","volume":"124","author":"Tsukada","year":"2015","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Erdenechuluun, J., Lin, Y.-H., Ganbat, K., Bataakhuu, D., Makhbal, Z., Tsai, C.-Y., Lin, Y.-H., Chan, Y.-H., Hsu, C.-J., and Hsu, W.-C. (2018). Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0209797"},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Wu, C.C., Tsai, C.Y., Lin, Y.H., Chen, P.Y., Lin, P.H., Cheng, Y.F., Wu, C.M., Lin, Y.H., Lee, C.Y., and Erdenechuluun, J. (2019). Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population. Genes, 10.","DOI":"10.3390\/genes10100772"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/ng1297-411","article-title":"Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)","volume":"17","author":"Everett","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"9727","DOI":"10.1073\/pnas.96.17.9727","article-title":"Expression pattern of the mouse ortholog of the Pendred\u2019s syndrome gene (Pds) suggests a key role for pendrin in the inner ear","volume":"96","author":"Everett","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1007\/s00424-003-1090-3","article-title":"The SLC26 gene family of multifunctional anion exchangers","volume":"447","author":"Mount","year":"2004","journal-title":"Pflug. Arch."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Honda, K., and Griffith, A.J. (2021). Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss. Hum. Genet.","DOI":"10.1007\/s00439-021-02311-1"},{"key":"ref_18","doi-asserted-by":"crossref","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":"ref_19","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1016\/j.otohns.2006.12.011","article-title":"The large vestibular aqueduct: A new definition based on audiologic and computed tomography correlation","volume":"136","author":"Boston","year":"2007","journal-title":"Otolaryngol. Head Neck Surg."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.3174\/ajnr.A0495","article-title":"When is the vestibular aqueduct enlarged? A statistical analysis of the normative distribution of vestibular aqueduct size","volume":"28","author":"Vijayasekaran","year":"2007","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1159\/000335163","article-title":"Integration of human and mouse genetics reveals pendrin function in hearing and deafness","volume":"28","author":"Dror","year":"2011","journal-title":"Cell Physiol. Biochem."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Roesch, S., Rasp, G., Sarikas, A., and Dossena, S. (2021). Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review. Audiol. Res., 11.","DOI":"10.3390\/audiolres11030040"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1007\/s00439-020-02199-3","article-title":"The Human Gene Mutation Database (HGMD\u00ae): Optimizing its use in a clinical diagnostic or research setting","volume":"139","author":"Stenson","year":"2020","journal-title":"Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1111\/j.1399-0004.2005.00539.x","article-title":"Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK\u2014Implications for genetic testing","volume":"68","author":"Hutchin","year":"2005","journal-title":"Clin. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1469-1809.2010.00581.x","article-title":"Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA)","volume":"74","author":"Janousek","year":"2010","journal-title":"Ann. Hum. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Nonose, R.W., Lezirovitz, K., de Mello Auricchio, M.T.B., Batissoco, A.C., Yamamoto, G.L., and Mingroni-Netto, R.C. (2018). Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. BMC Med. Genet., 19.","DOI":"10.1186\/s12881-018-0585-x"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ijporl.2019.06.012","article-title":"A systematic review of SLC26A4 mutations causing hearing loss in the Iranian population","volume":"125","author":"Koohiyan","year":"2019","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/jhg.2009.21","article-title":"SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred\u2019s syndrome in Pakistanis","volume":"54","author":"Anwar","year":"2009","journal-title":"J. Hum. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"3021","DOI":"10.1007\/s00405-020-06026-3","article-title":"Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India","volume":"277","author":"Chandru","year":"2020","journal-title":"Eur. Arch. Otorhinolaryngol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1038\/s41598-018-38245-4","article-title":"Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population","volume":"9","author":"Han","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1080\/00016480701767382","article-title":"GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects","volume":"128","author":"Guo","year":"2008","journal-title":"Acta Otolaryngol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"2226","DOI":"10.1002\/ajmg.a.36068","article-title":"Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China","volume":"161A","author":"Chai","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.ijporl.2019.04.024","article-title":"Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China","volume":"122","author":"Xiang","year":"2019","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1080\/00016489.2019.1609699","article-title":"Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China","volume":"139","author":"Zhang","year":"2019","journal-title":"Acta Otolaryngol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1016\/j.ijporl.2015.06.009","article-title":"Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct","volume":"79","author":"Pang","year":"2015","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_36","doi-asserted-by":"crossref","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"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"e1734","DOI":"10.1002\/mgg3.1734","article-title":"Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene","volume":"9","author":"Tian","year":"2021","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1670","DOI":"10.1016\/j.ijporl.2013.07.023","article-title":"A systematic review and meta-analysis of common mutations of SLC26A4 gene in Asian populations","volume":"77","author":"Du","year":"2013","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"e2248","DOI":"10.1097\/MD.0000000000002248","article-title":"Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis","volume":"94","author":"Lu","year":"2015","journal-title":"Medicine"},{"key":"ref_40","first-page":"225","article-title":"Tuvans of Mongolia and China","volume":"1","author":"Mongush","year":"1996","journal-title":"Int. J. Cent. Asian Stud."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1002\/ajpa.21453","article-title":"Brief communication: Y-chromosome haplogroup analysis indicates that Chinese Tuvans share distinctive affinity with Siberian Tuvans","volume":"144","author":"Chen","year":"2011","journal-title":"Am. J. Phys. Anthropol."},{"key":"ref_42","unstructured":"Vainshtein, S.I., and Mannay-Ool, M.H. (2001). History of Tyva, Science. [2nd ed.]. (In Russian)."},{"key":"ref_43","unstructured":"Mannai-ool, M.K. (2004). Tuvan People. The Origin and Formation of the Ethnos, Nauka Publ.. (In Russian)."},{"key":"ref_44","unstructured":"Potapov, L.P. (1969). Ethnical Structure and Origin of Altaians, Nauka. (In Russian)."},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Posukh, O., Pallares-Ruiz, N., Tadinova, V., Osipova, L., Claustres, M., and Roux, A.-F. (2005). First molecular screening of deafness in the Altai Republic population. BMC Med. Genet., 6.","DOI":"10.1186\/1471-2350-6-12"},{"key":"ref_46","first-page":"982","article-title":"Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia","volume":"45","author":"Dzhemileva","year":"2009","journal-title":"Genetika"},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Churbanov, A.Y., Karafet, T.M., Morozov, I.V., Mikhalskaia, V.Y., Zytsar, M.V., Bondar, A.A., and Posukh, O.L. (2016). Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0153841"},{"key":"ref_48","doi-asserted-by":"crossref","unstructured":"Posukh, O.L., Zytsar, M.V., Bady-Khoo, M.S., Danilchenko, V.Y., Maslova, E.A., Barashkov, N.A., Bondar, A.A., Morozov, I.V., Maximov, V.N., and Voevoda, M.I. (2019). Unique mutational spectrum of the GJB2 Gene and its pathogenic contribution to deafness in Tuvinians (Southern Siberia, Russia): A high prevalence of rare variant c.516G>C (p.Trp172Cys). Genes, 10.","DOI":"10.3390\/genes10060429"},{"key":"ref_49","unstructured":"Posukh, O.L. Personal communication."},{"key":"ref_50","unstructured":"Danilchenko, V.Y. Personal communication."},{"key":"ref_51","doi-asserted-by":"crossref","unstructured":"Zytsar, M.V., Bady-Khoo, M.S., Danilchenko, V.Y., Maslova, E.A., Barashkov, N.A., Morozov, I.V., Bondar, A.A., and Posukh, O.L. (2020). High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect. Genes, 11.","DOI":"10.3390\/genes11070833"},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"Zhang, Y. (2008). I-TASSER server for protein 3D structure prediction. BMC Bioinform., 9.","DOI":"10.1186\/1471-2105-9-40"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nprot.2010.5","article-title":"I-TASSER: A unified platform for automated protein structure and function prediction","volume":"5","author":"Roy","year":"2010","journal-title":"Nat. Protoc."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/nmeth.3213","article-title":"The I-TASSER Suite: Protein structure and function prediction","volume":"12","author":"Yang","year":"2015","journal-title":"Nat. Methods"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/elps.1150181505","article-title":"SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling","volume":"18","author":"Guex","year":"1997","journal-title":"Electrophoresis"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/j.otohns.2008.12.035","article-title":"Enlarged vestibular aqueduct in pediatric sensorineural hearing loss","volume":"140","author":"Dewan","year":"2009","journal-title":"Otolaryngol. Head Neck Surg."},{"key":"ref_57","first-page":"475","article-title":"Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome","volume":"36","author":"Coucke","year":"1999","journal-title":"J. Med. Genet."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1097\/GIM.0b013e31817d2ef1","article-title":"SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss","volume":"10","author":"Dai","year":"2008","journal-title":"Genet. Med."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1093\/hmg\/7.7.1099","article-title":"Two frequent missense mutations in Pendred syndrome","volume":"7","author":"Everett","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1007\/s004390050933","article-title":"Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations","volume":"104","author":"Usami","year":"1999","journal-title":"Hum. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"S10","DOI":"10.3342\/ceo.2012.5.S1.S10","article-title":"Genetic screening of GJB2 and SLC26A4 in Korean cochlear implantees: Experience of Soree ear clinic","volume":"5","author":"Shin","year":"2012","journal-title":"Clin. Exp. Otorhinolaryngol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1097\/01.MLG.0000163339.61909.D0","article-title":"Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and\/or Mondini dysplasia: A unique spectrum of mutations in Taiwan, including a frequent founder mutation","volume":"115","author":"Wu","year":"2005","journal-title":"Laryngoscope"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"13004","DOI":"10.1074\/jbc.M313648200","article-title":"Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux","volume":"279","author":"Gillam","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1136\/jmg.2007.054635","article-title":"Heterogeneity in the processing defect of SLC26A4 mutants","volume":"45","author":"Yoon","year":"2008","journal-title":"J. Med. Genet."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1111\/cge.12273","article-title":"Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations","volume":"86","author":"Lee","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Zhao, J., Yuan, Y., Huang, S., Huang, B., Cheng, J., Kang, D., Wang, G., Han, D., and Dai, P. (2014). KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0108134"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1007\/s10528-013-9582-0","article-title":"SLC26A4 mutations in patients with moderate to severe hearing loss","volume":"51","author":"Khan","year":"2013","journal-title":"Biochem. Genet."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.ijporl.2017.08.006","article-title":"Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort","volume":"101","author":"Cengiz","year":"2017","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_69","first-page":"105","article-title":"Compound heterozygosity for novel and known mutations in SLC26A4 cause large vestibular aqueduct","volume":"9","author":"Uzumcu","year":"2006","journal-title":"Balkan J. Med. Genet."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1136\/jmg.2004.024208","article-title":"SLC26A4\/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): Evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities","volume":"42","author":"Pryor","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"e384","DOI":"10.7717\/peerj.384","article-title":"Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss","volume":"2","author":"Pique","year":"2014","journal-title":"PeerJ"},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Smits, J.J., de Bruijn, S.E., Lanting, C.P., Oostrik, J., O\u2019Gorman, L., Mantere, T., DOOFNL Consortium, Cremers, F.P.M., Roosing, S., and Yntema, H.G. (2021). Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant. Hum. Genet.","DOI":"10.21203\/rs.3.rs-577715\/v1"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/11\/12\/2378\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:50:26Z","timestamp":1760169026000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/11\/12\/2378"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,17]]},"references-count":72,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["diagnostics11122378"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics11122378","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,17]]}}}