{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T11:14:08Z","timestamp":1788088448700,"version":"build-2803163510"},"reference-count":59,"publisher":"Institute of Cytology and Genetics, SB RAS","issue":"5","license":[{"start":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T00:00:00Z","timestamp":1787702400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/vavilov.elpub.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Vestn. VOGiS"],"abstract":"<jats:p>\n                    Pathogenic variants in the\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    gene (solute carrier family 26, member 4) are a common cause of inherited hearing loss. The\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    gene encodes the transmembrane protein pendrin, a member of the SLC26 anion transporter family, with predominant expression in the inner ear, thyroid, and kidney tissues. Pathogenic\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    variants cause nonsyndromic recessive hearing loss (DFNB4) and Pendred syndrome (sensorineural hearing loss and thyroid dysfunction). In many studies analyzing the\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    gene, along with patients who have two recessive pathogenic\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    variants (M2 patients) and an accurate molecular genetic diagnosis can be made, a group of patients with only one pathogenic\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    variant (M1 patients) is often identified, which creates a diagnostic problem. The presence of M1 patients may reflect copy number variations (CNVs, deletions\/duplications) in the\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    gene that are not detected by routine diagnostic methods. The aim of the study is to search for deletions\/duplications in the\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    gene using the MLPA (Multiplex Ligation-dependent Probe Amplification) method in thirteen patients belonging to the indigenous people of the Tyva Republic (Southern Siberia), in whom only one pathogenic\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    variant (M1 patients) was identified during the study of the etiology of hereditary hearing loss. As a result of MLPA analysis and molecular cloning in DNA samples of three M1 patients from two related Tuvinian families, a novel variant was revealed \u2013 tandem duplication of twelve nucleotides (c.1185_1196dup) in exon 10 of the\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    gene. This variant is an in-frame insertion resulting in the inclusion of four additional amino acid residues Gly-Phe-Phe-Ser (p.(Gly396_Ser399dup)) in a highly conserved region of the pendrin protein. Most predictive programs predict the damaging effect of the c.1185_1196dup variant on the structure and function of the pendrin protein. The pathogenicity of the c.1185_1196dup variant is supported by its segregation with hearing pathology in the pedigree of patients in whom it was found in a compound heterozygous state with pathogenic\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    variants, as well as its absence in a control sample of Tuvinians and in the world genomic databases. Functional\n                    <jats:italic>in vitro<\/jats:italic>\n                    studies are needed to confirm the potentially deleterious effects of the novel c.1185_1196dup (p.(Gly396_Ser399dup)) variant and its association with hearing pathology.\u00a0\n                  <\/jats:p>","DOI":"10.18699\/vjgb-26-82","type":"journal-article","created":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T09:03:05Z","timestamp":1788080585000},"page":"814-823","source":"Crossref","is-referenced-by-count":0,"title":["A novel variant c.1185_1196dup (p.(Gly396_Ser399dup))  in the SLC26A4 gene associated with recessive hearing loss"],"prefix":"10.18699","volume":"30","author":[{"given":"M. V.","family":"Zytsar","sequence":"first","affiliation":[{"name":"Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences"},{"name":"Novosibirsk State University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Yu.","family":"Danilchenko","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences"},{"name":"Novosibirsk State University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. A.","family":"Bondar","sequence":"additional","affiliation":[{"name":"Knorre Institute of Chemical Biology and Fundamental Medicine of the Siberian Branch of the Russian Academy of Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. E.","family":"Orishchenko","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences"},{"name":"Novosibirsk State University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O. L.","family":"Posukh","sequence":"additional","affiliation":[{"name":"Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences"},{"name":"Novosibirsk State University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7950","published-online":{"date-parts":[[2026,8,26]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Abderrazzaq H., Singh M., Babb L., Bergquist T., Brenner S.E., Pejaver V., O\u2019Donnell-Luria A., Radivojac P., ClinGen Computational Working Group and ClinGen Variant Classification Working Group. 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