{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T20:27:19Z","timestamp":1781555239085,"version":"3.54.5"},"reference-count":68,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2022,12,6]],"date-time":"2022-12-06T00:00:00Z","timestamp":1670284800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"the Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["FSRG-2020-0016"],"award-info":[{"award-number":["FSRG-2020-0016"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012190","name":"the Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["#20-015-00328_A"],"award-info":[{"award-number":["#20-015-00328_A"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]},{"name":"YSC CMP project \u201cStudy of the genetic structure and burden of hereditary pathology of the populations of the Republic of Sakha (Yakutia)\u201d","award":["FSRG-2020-0016"],"award-info":[{"award-number":["FSRG-2020-0016"]}]},{"name":"YSC CMP project \u201cStudy of the genetic structure and burden of hereditary pathology of the populations of the Republic of Sakha (Yakutia)\u201d","award":["#20-015-00328_A"],"award-info":[{"award-number":["#20-015-00328_A"]}]},{"name":"RFBR","award":["FSRG-2020-0016"],"award-info":[{"award-number":["FSRG-2020-0016"]}]},{"name":"RFBR","award":["#20-015-00328_A"],"award-info":[{"award-number":["#20-015-00328_A"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Pathogenic variants in the SLC26A4, FOXI1, and KCNJ10 genes are associated with hearing loss (HL) and specific inner ear abnormalities (DFNB4). In the present study, phenotype analyses, including clinical data collection, computed tomography (CT), and audiometric examination, were performed on deaf individuals from the Sakha Republic of Russia (Eastern Siberia). In cases with cochleovestibular malformations, molecular genetic analysis of the coding regions of the SLC26A4, FOXI1, and KCNJ10 genes associated with DFNB4 was completed. In six of the 165 patients (3.6%), CT scans revealed an incomplete partition of the cochlea (IP-1 and IP-2), in isolation or combined with an enlarged vestibular aqueduct (EVA) anomaly. Sequencing of the SLC26A4, FOXI1, and KCNJ10 genes was performed in these six patients. In the SLC26A4 gene, we identified four variants, namely c.85G&gt;C p.(Glu29Gln), c.757A&gt;G p.(Ile253Val), c.2027T&gt;A p.(Leu676Gln), and c.2089+1G&gt;A (IVS18+1G&gt;A), which are known as pathogenic, as well as c.441G&gt;A p.(Met147Ile), reported previously as a variant with uncertain significance. Using the AlphaFold algorithm, we found in silico evidence of the pathogenicity of this variant. We did not find any causative variants in the FOXI1 and KCNJ10 genes, nor did we find any evidence of digenic inheritance associated with double heterozygosity for these genes with monoallelic SLC26A4 variants. The contribution of biallelic SLC26A4 variants in patients with IP-1, IP-2, IP-2+EVA, and isolated EVA was 66.7% (DFNB4 in three patients, Pendred syndrome in one patient). Seventy-five percent of SLC26A4-biallelic patients had severe or profound HL. The morphology of the inner ear anomalies demonstrated that, among SLC26A4-biallelic patients, all types of incomplete partition of the cochlea are possible, from IP-1 and IP-2, to a normal cochlea. However, the dominant type of anomaly was IP-2+EVA (50.0%). This finding is very important for cochlear implantation, since the IP-2 anomaly does not have an increased risk of \u201cgushers\u201d and recurrent meningitis.<\/jats:p>","DOI":"10.3390\/ijms232315372","type":"journal-article","created":{"date-parts":[[2022,12,6]],"date-time":"2022-12-06T02:55:39Z","timestamp":1670295339000},"page":"15372","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Analysis of SLC26A4,\u00a0FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies"],"prefix":"10.3390","volume":"23","author":[{"given":"Leonid A.","family":"Klarov","sequence":"first","affiliation":[{"name":"Yakut Science Centre of Complex Medical Problems, 677000 Yakutsk, Russia"},{"name":"Republican Hospital # 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"},{"name":"Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera G.","family":"Pshennikova","sequence":"additional","affiliation":[{"name":"Yakut Science Centre of Complex Medical Problems, 677000 Yakutsk, Russia"},{"name":"Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2936-5818","authenticated-orcid":false,"given":"Georgii P.","family":"Romanov","sequence":"additional","affiliation":[{"name":"Yakut Science Centre of Complex Medical Problems, 677000 Yakutsk, Russia"},{"name":"Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra M.","family":"Cherdonova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisen V.","family":"Solovyev","sequence":"additional","affiliation":[{"name":"Yakut Science Centre of Complex Medical Problems, 677000 Yakutsk, Russia"},{"name":"Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fedor M.","family":"Teryutin","sequence":"additional","affiliation":[{"name":"Yakut Science Centre of Complex Medical Problems, 677000 Yakutsk, Russia"},{"name":"Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolay V.","family":"Luginov","sequence":"additional","affiliation":[{"name":"Republican Hospital # 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"},{"name":"Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1940-9175","authenticated-orcid":false,"given":"Petr M.","family":"Kotlyarov","sequence":"additional","affiliation":[{"name":"Russian Scientific Center for Radiology, 117997 Moscow, 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 Science Centre of Complex Medical Problems, 677000 Yakutsk, Russia"},{"name":"Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1093\/hmg\/4.9.1637","article-title":"Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population","volume":"4","author":"Baldwin","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/ng1297-411","article-title":"Pendred Syndrome Is Caused by Pathogenic variants in a Putative Sulphate Transporter Gene (PDS)","volume":"17","author":"Everett","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<322::AID-AJMG9>3.0.CO;2-0","article-title":"Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene","volume":"82","author":"Abe","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/ng0398-215","article-title":"A pathogenic variant in PDS causes non-syndromic recessive deafness","volume":"18","author":"Li","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_5","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 pathogenic variants","volume":"104","author":"Usami","year":"1999","journal-title":"Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/humu.1116","article-title":"Pendred syndrome, DFNB4, and PDS\/SLC26A4 identification of eight novel pathogenic variants and possible genotype-phenotype correlations","volume":"17","author":"Campbell","year":"2001","journal-title":"Hum. Mutat."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1002\/lary.5540971301","article-title":"Congenital Malformations of the Inner Ear: A Classification Based on Embryogenesis","volume":"97","author":"Jackler","year":"1987","journal-title":"Laryngoscope"},{"key":"ref_8","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_9","doi-asserted-by":"crossref","first-page":"2230","DOI":"10.1097\/00005537-200212000-00019","article-title":"A New Classification for Cochleovestibular Malformations","volume":"112","author":"Sennaroglu","year":"2002","journal-title":"Laryngoscope"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"397","DOI":"10.4274\/balkanmedj.2017.0367","article-title":"Classification and Current Management of Inner Ear Malformations","volume":"34","author":"Bajin","year":"2017","journal-title":"Balkan Med. J."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1038\/7783","article-title":"The Pendred Syndrome Gene Encodes a Chloride-Iodide Transport Protein","volume":"21","author":"Scott","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"C207","DOI":"10.1152\/ajpcell.2000.278.1.C207","article-title":"Human Pendrin Expressed in Xenopus Laevis Oocytes Mediates Chloride\/Formate Exchange","volume":"278","author":"Scott","year":"2000","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1097\/00041552-200109000-00020","article-title":"Molecular physiology of the renal chloride-formate exchanger","volume":"10","author":"Soleimani","year":"2001","journal-title":"Curr. Opin. Nephrol. Hypertens."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1210\/endo.141.2.7303","article-title":"Pendrin, the Protein Encoded by the Pendred Syndrome Gene (PDS), Is an Apical Porter of Iodide in the Thyroid and Is Regulated by Thyroglobulin in FRTL-5 Cells","volume":"141","author":"Royaux","year":"2000","journal-title":"Endocrinology"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"4221","DOI":"10.1073\/pnas.071516798","article-title":"Pendrin, Encoded by the Pendred Syndrome Gene, Resides in the Apical Region of Renal Intercalated Cells and Mediates Bicarbonate Secretion","volume":"98","author":"Royaux","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Dossena, S., and Paulmichl, M. (2017). The Pendrin Polypeptide. The Role of Pendrin in Health and Disease, Springer.","DOI":"10.1007\/978-3-319-43287-8"},{"key":"ref_17","unstructured":"Tsirkin, V.I., Trukhina, S.I., and Trukhin, A.N. (2020). Neurophysiology: Physiology of Sensory Systems: A Textbook for Universities, Yurayt Publishing House. [2nd ed.]. (In Russian)."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"S61","DOI":"10.1177\/0003489415575060","article-title":"Ethnic-specific spectrum of GJB2 and SLC26A4 pathogenic variants: Their origin and a literature review","volume":"124","author":"Tsukada","year":"2015","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1016\/j.ijporl.2015.06.009","article-title":"Mono-allelic pathogenic variants 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_20","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1038\/sj.ejhg.5201073","article-title":"Distribution and frequencies of PDS (SLC26A4) pathogenic variants in Pendred Syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: A unique spectrum of pathogenic variants in Japanese","volume":"11","author":"Tsukamoto","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1136\/jmg.40.4.242","article-title":"Origins and Frequencies of SLC26A4 (PDS) Pathogenic variants 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_22","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1038\/s41598-018-38245-4","article-title":"Elucidation of the unique pathogenic variant spectrum of severe hearing loss in a Vietnamese pediatric population","volume":"9","author":"Han","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1080\/00016480701767382","article-title":"GJB2, SLC26A4 and mitochondrial DNA A1555G pathogenic variants in prelingual deafness in Northern Chinese subjects","volume":"128","author":"Guo","year":"2008","journal-title":"Acta Otolaryngol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/jhg.2014.12","article-title":"Deafness Gene Study Consortium. Pathogenic variant spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 pathogenic variants in the Japanese: A large cohort study","volume":"5","author":"Miyagawa","year":"2014","journal-title":"J. Hum. Genet."},{"key":"ref_25","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":"161","author":"Chai","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.ijporl.2019.04.024","article-title":"Pathogenic variant 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_27","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1080\/00016489.2019.1609699","article-title":"Pathogenic variant 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_28","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 pathogenic variants in Mongolians provide insights into the genetic relationships among Eurasian populations. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0209797"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1111\/j.1399-0004.2004.00296.x","article-title":"Screening of SLC26A4 (PDS) gene in Pendred\u2019s syndrome: A large spectrum of pathogenic variants in France and phenotypic heterogeneity","volume":"66","author":"Blons","year":"2004","journal-title":"Clin. Genet."},{"key":"ref_30","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_31","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_32","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1469-1809.2010.00581.x","article-title":"Spectrum and frequency of SLC26A4 pathogenic variants 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_33","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ijporl.2019.06.012","article-title":"A systematic review of SLC26A4 pathogenic variants causing hearing loss in the Iranian population","volume":"125","author":"Koohiyan","year":"2019","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1001\/archotol.131.5.388","article-title":"Investigation of the Role of Congenital Cytomegalovirus Infection in the Etiology of Enlarged Vestibular Aqueducts","volume":"131","author":"Pryor","year":"2005","journal-title":"Arch. Otolaryngol. Head Neck Surg."},{"key":"ref_35","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_36","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_37","doi-asserted-by":"crossref","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":"10","author":"Chattaraj","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","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."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1089\/gtmb.2010.0177","article-title":"Identification of SLC26A4 pathogenic variants in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis","volume":"15","author":"Mercer","year":"2011","journal-title":"Genet. Test. Mol. Biomark."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1159\/000231567","article-title":"Phenotypic analyses and pathogenic variant 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."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1017\/S002221511100346X","article-title":"Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct","volume":"126","author":"Lai","year":"2012","journal-title":"J. Laryngol. Otol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1006\/geno.1997.4957","article-title":"Assignment of the glial inwardly rectifying potassium channel K(AB)-2\/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1","volume":"45","author":"Tada","year":"1997","journal-title":"Genomics"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"5842","DOI":"10.1073\/pnas.0901749106","article-title":"Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by pathogenic variants in KCNJ10","volume":"106","author":"Scholl","year":"2009","journal-title":"Proc. Nat. Acad. Sci. USA"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"14490","DOI":"10.1073\/pnas.1003072107","article-title":"KCNJ10 gene pathogenic variants causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function","volume":"107","author":"Reichold","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1006\/geno.1995.1266","article-title":"Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)","volume":"30","author":"Larsson","year":"1995","journal-title":"Genomics"},{"key":"ref_46","doi-asserted-by":"crossref","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."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.ajhg.2009.04.014","article-title":"Pathogenic variants of KCNJ10 together with pathogenic variants 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."},{"key":"ref_48","doi-asserted-by":"crossref","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."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"e384","DOI":"10.7717\/peerj.384","article-title":"Pathogenic variant 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_50","unstructured":"Lobov, S.L. (2013). Structural Features of the Pendrina (SLC26A4) and Prestin (SLC26A5) Genes in Patients with Hereditary Non-Syndromic Sensorineural Deafness, Institute of Biochemistry and Genetics, USC RAS. (In Russian)."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1134\/S1022795416120085","article-title":"Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders","volume":"53","author":"Mironovich","year":"2017","journal-title":"Russ. J. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"Danilchenko, V.Y., Zytsar, M.V., Maslova, E.A., Bady-Khoo, M.S., Barashkov, N.A., Morozov, I.V., Bondar, A.A., and Posukh, O.L. (2021). Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia). Diagnostics, 11.","DOI":"10.3390\/diagnostics11122378"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1016\/j.ijporl.2010.06.002","article-title":"Screening of SLC26A4, FOXI1 and KCNJ10 Genes in Unilateral Hearing Impairment with Ipsilateral Enlarged Vestibular Aqueduct","volume":"74","author":"Jonard","year":"2010","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_54","doi-asserted-by":"crossref","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."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1002\/humu.23630","article-title":"ClinGen Hearing Loss Clinical Domain Working Group. Expert specification of the ACMG\/AMP variant interpretation guidelines for genetic hearing loss","volume":"39","author":"Oza","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1002\/pro.3997","article-title":"Templates for writing PyMOL scripts","volume":"30","author":"Mooers","year":"2021","journal-title":"Protein Sci."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1093\/qjmed\/93.2.99","article-title":"Enlarged vestibular aqueduct: A radiological marker of pendred syndrome, and pathogenic variant of the PDS gene","volume":"93","author":"Reardon","year":"2000","journal-title":"QJM"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1007\/s00439-021-02311-1","article-title":"Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss","volume":"141","author":"Honda","year":"2022","journal-title":"Hum. Genet."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1590\/2359-3997000000108","article-title":"Pathogenic variant screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism","volume":"60","author":"Fu","year":"2016","journal-title":"Arch. Endocrinol. Metab."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"2574","DOI":"10.1002\/lary.27319","article-title":"Association of SLC26A4 Pathogenic variants, Morphology, and Hearing in Pendred Syndrome and NSEVA","volume":"129","author":"Mey","year":"2019","journal-title":"Laryngoscope"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the Effects of Coding Non-Synonymous Variants on Protein Function Using the SIFT Algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense pathogenic variants","volume":"4","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"Pathogenic variantTaster2: Pathogenic variant prediction for the deep-sequencing age","volume":"4","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: A tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Choi","year":"2015","journal-title":"Bioinformatics"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1038\/s41586-021-03828-1","article-title":"Highly accurate protein structure prediction for the human proteome","volume":"596","author":"Tunyasuvunakool","year":"2021","journal-title":"Nature"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"2753","DOI":"10.1110\/ps.04774004","article-title":"In Silico Protein Design by Combinatorial Assembly of Protein Building Blocks","volume":"13","author":"Tsai","year":"2004","journal-title":"Protein Sci."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/jcc.21601","article-title":"Predicting the accuracy of protein-ligand docking on homology models","volume":"32","author":"Bordogna","year":"2011","journal-title":"J. Comput. Chem."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/23\/15372\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:34:45Z","timestamp":1760146485000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/23\/15372"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,6]]},"references-count":68,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["ijms232315372"],"URL":"https:\/\/doi.org\/10.3390\/ijms232315372","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,6]]}}}