{"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":1781555239093,"version":"3.54.5"},"reference-count":73,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["21-75-00030"],"award-info":[{"award-number":["21-75-00030"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["FSUS-2020-0040"],"award-info":[{"award-number":["FSUS-2020-0040"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministry of Education and Science of Russian Federation","award":["21-75-00030"],"award-info":[{"award-number":["21-75-00030"]}]},{"name":"Ministry of Education and Science of Russian Federation","award":["FSUS-2020-0040"],"award-info":[{"award-number":["FSUS-2020-0040"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Screening pathogenic variants in the SLC26A4 gene is an important part of molecular genetic testing for hearing loss (HL) since they are one of the common causes of hereditary HL in many populations. However, a large size of the SLC26A4 gene (20 coding exons) predetermines the difficulties of its complete mutational analysis, especially in large samples of patients. In addition, the regional or ethno-specific prevalence of SLC26A4 pathogenic variants has not yet been fully elucidated, except variants c.919-2A&gt;G and c.2168A&gt;G (p.His723Arg), which have been proven to be most common in Asian populations. We explored the distribution of currently known pathogenic and likely pathogenic (PLP) variants across the SLC26A4 gene sequence presented in the Deafness Variation Database for the selection of potential diagnostically important parts of this gene. As a result of this bioinformatic analysis, we found that molecular testing ten SLC26A4 exons (4, 6, 10, 11, 13\u201317 and 19) with flanking intronic regions can provide a diagnostic rate of 61.9% for all PLP variants in the SLC26A4 gene. The primary sequencing of these SLC26A4 regions may be applied as an initial effective diagnostic testing in samples of patients of unknown ethnicity or as a subsequent step after the targeted testing of already-known ethno- or region-specific pathogenic SLC26A4 variants.<\/jats:p>","DOI":"10.3390\/ijms232113453","type":"journal-article","created":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T03:28:10Z","timestamp":1667532490000},"page":"13453","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss"],"prefix":"10.3390","volume":"23","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"}]},{"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":[[2022,11,3]]},"reference":[{"key":"ref_1","unstructured":"(2022, June 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. (2022, June 01). Hereditary Hearing Loss Homepage. Available online: https:\/\/hereditaryhearingloss.org."},{"key":"ref_4","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_5","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_6","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_7","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_8","doi-asserted-by":"crossref","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."},{"key":"ref_9","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_10","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_11","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_12","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_13","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_14","doi-asserted-by":"crossref","first-page":"4516","DOI":"10.1172\/JCI59353","article-title":"Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition","volume":"121","author":"Choi","year":"2011","journal-title":"J. Clin. Invest."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Li, X., Sanneman, J.D., Harbidge, D.G., Zhou, F., Ito, T., Nelson, R., Picard, N., Chambrey, R., Eladari, D., and Miesner, T. (2013). SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice. PLoS Genet., 9.","DOI":"10.1371\/journal.pgen.1003641"},{"key":"ref_16","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_17","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 mutations in France and phenotypic heterogeneity","volume":"66","author":"Blons","year":"2004","journal-title":"Clin. Genet."},{"key":"ref_18","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_19","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_20","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_21","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1542\/peds.2005-2519","article-title":"Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: A new approach for newborn screening follow-up","volume":"118","author":"Gardner","year":"2006","journal-title":"Pediatrics"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.20272","article-title":"Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations","volume":"124A","author":"Prasad","year":"2004","journal-title":"Am. J. Med. Genet. A."},{"key":"ref_23","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_24","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.jmoldx.2011.03.003","article-title":"Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting","volume":"13","author":"Chen","year":"2011","journal-title":"J. Mol. Diagn."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1089\/gtmb.2010.0177","article-title":"Identification of SLC26A4 mutations 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_26","doi-asserted-by":"crossref","unstructured":"Usami, S., Nishio, S.Y., Nagano, M., Abe, S., and Yamaguchi, T. (2012). Deafness Gene Study Consortium. Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: A multicenter study. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0031276"},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Wu, H., Feng, Y., Jiang, L., Pan, Q., Liu, Y., Liu, C., He, C., Chen, H., Liu, X., and Hu, C. (2016). Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0151909"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"42894","DOI":"10.1038\/srep42894","article-title":"Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis","volume":"7","author":"Wang","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_29","doi-asserted-by":"crossref","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. Biomark."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Liu, Y., Wang, L., Feng, Y., He, C., Liu, D., Cai, X., Jiang, L., Chen, H., Liu, C., and Wu, H. (2016). A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0168508"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/jhg.2015.143","article-title":"An effective screening strategy for deafness in combination with a next-generation sequencing platform: A consecutive analysis","volume":"61","author":"Sakuma","year":"2016","journal-title":"J. Hum. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/j.ajhg.2018.08.006","article-title":"Genomic Landscape and Mutational Signatures of Deafness-Associated Genes","volume":"103","author":"Azaiez","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_33","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_34","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1002\/humu.20884","article-title":"Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?","volume":"30","author":"Choi","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Yuan, Y., Guo, W., Tang, J., Zhang, G., Wang, G., Han, M., Zhang, X., Yang, S., He, D.Z., and Dai, P. (2012). Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0049984"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"18608","DOI":"10.1073\/pnas.0805831105","article-title":"Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA","volume":"105","author":"Pera","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/1479-5876-7-79","article-title":"Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China","volume":"7","author":"Yuan","year":"2009","journal-title":"J. Transl. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1111\/iji.12035","article-title":"Screening of SLC26A4 gene in autoimmune thyroid diseases","volume":"40","author":"Kallel","year":"2013","journal-title":"Int. J. Immunogenet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1016\/j.bbrc.2012.12.022","article-title":"A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss","volume":"430","author":"Kim","year":"2013","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"49S","DOI":"10.1177\/0003489415575059","article-title":"Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: Molecular epidemiology and deafness mutation spectrum of patients in Japan","volume":"124","author":"Nishio","year":"2015","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.1093\/hmg\/ddx145","article-title":"A frequent oligogenic involvement in congenital hypothyroidism","volume":"26","author":"Gelmini","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_42","first-page":"1172","article-title":"Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss","volume":"40","author":"Lee","year":"2019","journal-title":"Hum Mutat."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: Exonic mutations that affect splicing","volume":"4","author":"Cartegni","year":"2002","journal-title":"Nat. Rev. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1038\/nrg3051","article-title":"Understanding the contribution of synonymous mutations to human disease","volume":"10","author":"Sauna","year":"2011","journal-title":"Nat. Rev. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.tig.2014.04.006","article-title":"Exposing synonymous mutations","volume":"30","author":"Hunt","year":"2014","journal-title":"Trends Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/humu.9043","article-title":"Erratum: Identification of five new mutations of PDS\/SLC26A4 in Mediterranean families with hearing impairment","volume":"20","author":"Melchionda","year":"2002","journal-title":"Hum. Mutat."},{"key":"ref_47","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_48","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/humu.20400","article-title":"Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing","volume":"28","author":"Krawczak","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1002\/path.2649","article-title":"The pathobiology of splicing","volume":"220","author":"Ward","year":"2010","journal-title":"J. Pathol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1007\/s00439-017-1809-4","article-title":"Deep intronic mutations and human disease","volume":"136","year":"2017","journal-title":"Hum. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s13353-018-0444-7","article-title":"Splicing mutations in human genetic disorders: Examples, detection, and confirmation","volume":"59","author":"Abramowicz","year":"2018","journal-title":"J. Appl. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1101\/gr.231902.117","article-title":"Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides","volume":"28","author":"Zhang","year":"2018","journal-title":"Genome Res."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1101\/gr.238444.118","article-title":"Deciphering Developmental Disorders study. Pathogenicity and selective constraint on variation near splice sites","volume":"29","author":"Lord","year":"2019","journal-title":"Genome Res."},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Riolo, G., Cantara, S., and Ricci, C. (2021). What\u2019s Wrong in a Jump? Prediction and Validation of Splice Site Variants. Methods Protoc., 4.","DOI":"10.3390\/mps4030062"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1111\/j.1399-0004.2004.00386.x","article-title":"Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans","volume":"67","author":"Park","year":"2005","journal-title":"Clin. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1007\/s00431-003-1281-0","article-title":"Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene","volume":"162","author":"Massa","year":"2003","journal-title":"Eur. J. Pediatr."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1002\/humu.23930","article-title":"Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants","volume":"41","author":"Wasano","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1007\/s10038-007-0139-0","article-title":"Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: A unique SLC26A4 mutation spectrum","volume":"52","author":"Hu","year":"2007","journal-title":"J. Hum. Genet."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"E134","DOI":"10.1002\/lary.24368","article-title":"Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss","volume":"124","author":"Okamoto","year":"2014","journal-title":"Laryngoscope"},{"key":"ref_60","first-page":"51","article-title":"Molecular characterization of autosomal recessive non syndromic hearing loss in selected families from District Mardan, Pakistan","volume":"31","author":"Hussain","year":"2018","journal-title":"Pak. J. Pharm. Sci."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.ajhg.2014.09.001","article-title":"Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants","volume":"95","author":"Shearer","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1677\/JME-08-0175","article-title":"Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome","volume":"43","author":"Dossena","year":"2009","journal-title":"J. Mol. Endocrinol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.biochi.2016.10.002","article-title":"Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain","volume":"132","author":"Bassot","year":"2017","journal-title":"Biochimie"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"2420","DOI":"10.1016\/j.bbamem.2017.09.016","article-title":"Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling","volume":"1859","author":"Rapp","year":"2017","journal-title":"Biochim. Biophys. Acta Biomembr."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"R53","DOI":"10.1016\/S0960-9822(00)00335-3","article-title":"The STAS domain\u2014a link between anion transporters and antisigma-factor antagonists","volume":"10","author":"Aravind","year":"2000","journal-title":"Curr. Biol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1159\/000335104","article-title":"STAS domain structure and function","volume":"28","author":"Sharma","year":"2011","journal-title":"Cell Physiol. Biochem."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.2741\/4677","article-title":"Homology of pendrin, sodium-iodide symporter and apical iodide transporter","volume":"23","author":"Benvenga","year":"2018","journal-title":"Front. Biosci."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1007\/s00439-021-02320-0","article-title":"Molecular genetic landscape of hereditary hearing loss in Pakistan","volume":"141","author":"Naz","year":"2022","journal-title":"Hum. Genet."},{"key":"ref_69","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_70","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_71","doi-asserted-by":"crossref","first-page":"2916","DOI":"10.1210\/jc.2002-021334","article-title":"Mutations in the PDS gene in German families with Pendred\u2019s syndrome: V138F is a founder mutation","volume":"88","author":"Borck","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1828","DOI":"10.1016\/j.ijporl.2014.08.035","article-title":"Identification of a founder mutation for Pendred syndrome in families from northwest Iran. Int","volume":"78","author":"Mohseni","year":"2014","journal-title":"J. Pediatr. Otorhinolaryngol."},{"key":"ref_73","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"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/21\/13453\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:10:01Z","timestamp":1760145001000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/21\/13453"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,3]]},"references-count":73,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2022,11]]}},"alternative-id":["ijms232113453"],"URL":"https:\/\/doi.org\/10.3390\/ijms232113453","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,3]]}}}