{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T22:19:07Z","timestamp":1789165147644,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T00:00:00Z","timestamp":1739836800000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Hereditary hearing loss (HHL) is a clinically and genetically heterogeneous sensorineural disorder that presents challenges for diagnosis. Next\u2010generation sequencing (NGS) approaches have facilitated a more cost\u2010effective, streamlined diagnostic process. This study aimed to identify HHL variants using NGS in Iranian Azeri families in Ardabil Province, establishing a suitable framework for screening programs tailored to the local population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Seventy\u2010four\n                      <jats:italic>GJB2<\/jats:italic>\n                      \u2010negative Azeri families with HHL from Ardabil Province of Iran were studied using the OtoSCOPE panel and\/or exome sequencing over 15\u2010years from 2008 to 2023.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Data analysis revealed 53 HHL variants in 52 of the 74 most consanguineous families (70%), including 34 pathogenic\/likely pathogenic variants and 19 variants of uncertain significance. Seventeen of the detected variants were novel.\n                      <jats:italic>SLC26A4<\/jats:italic>\n                      ,\n                      <jats:italic>MYO7A, USH2A<\/jats:italic>\n                      , and\n                      <jats:italic>TMPRSS3<\/jats:italic>\n                      were the most prevalent mutated genes for non\u2010syndromic hearing loss (NSHL) and syndromic hearing loss (SHL) in this study.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our results are comparable to those of previous studies, indicating that\n                      <jats:italic>SLC26A4<\/jats:italic>\n                      is the second most common cause of HHL, after\n                      <jats:italic>GJB2<\/jats:italic>\n                      . Moreover, our study emphasizes the significance of understanding the genetic basis of HL for early diagnosis and the implementation of suitable screening programs for various ethnicities in Iran.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70080","type":"journal-article","created":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T02:10:57Z","timestamp":1739931057000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1200-4044","authenticated-orcid":false,"given":"Marzieh","family":"Mohseni","sequence":"first","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farzane Zare","family":"Ashrafi","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan","family":"Abbaspour Rodbaneh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pathology Ardabil University of Medical Sciences  Ardabil Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haleh","family":"Mokabber","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pathology Ardabil University of Medical Sciences  Ardabil Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Vafaei","sequence":"additional","affiliation":[{"name":"Kariminejad \u2013 Najmabadi Pathology &amp; 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