{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T09:18:26Z","timestamp":1768036706227,"version":"3.49.0"},"reference-count":54,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T00:00:00Z","timestamp":1722902400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["469177153"],"award-info":[{"award-number":["469177153"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hearing loss is one of the most prevalent genetic disorders in humans. Locus and allelic heterogeneity cause fundamental challenges in hearing loss genetic diagnosis and management of patients and their families. This study examined the genetic profile of patients with prelingual hearing loss who were referred to the Genetic Foundation of Khorasan Razavi spanning over a decade. Deleterious variants in <jats:italic>GJB2<\/jats:italic> were evaluated through Sanger sequencing among 745 non\u2010syndromic hearing loss patients. Furthermore, exome sequencing was applied in 250 patients with negative <jats:italic>GJB2<\/jats:italic> sequencing results and 30 patients with syndromic hearing loss. The findings revealed a relatively low frequency of <jats:italic>GJB2<\/jats:italic> variants among the studied patients. Exome sequencing successfully identified the genetic causes of hearing loss in 70% of the patients. Moreover, variants in 10 genes, namely <jats:italic>SLC26A4<\/jats:italic>, <jats:italic>MYO15A<\/jats:italic>, <jats:italic>TMPRSS3<\/jats:italic>, <jats:italic>TMC1<\/jats:italic>, <jats:italic>OTOF<\/jats:italic>, <jats:italic>CDH23<\/jats:italic>, <jats:italic>PJVK<\/jats:italic>, <jats:italic>MYO7A<\/jats:italic>, <jats:italic>TECTA<\/jats:italic>, and <jats:italic>PCDH15<\/jats:italic>, accounted for 66% of the positive exome sequencing findings in this study. At least three prevalent founder alleles in the hearing\u2010impaired population of eastern Iran were identified. This study emphasizes the efficiency of exome sequencing as a powerful tool for determining the etiology of prelingual hearing loss in the eastern Iranian population.<\/jats:p>","DOI":"10.1111\/cge.14599","type":"journal-article","created":{"date-parts":[[2024,8,7]],"date-time":"2024-08-07T02:18:45Z","timestamp":1722997125000},"page":"693-701","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetic landscape of hearing loss in prelingual deaf patients of eastern <scp>Iran<\/scp>: Insights from exome sequencing analysis"],"prefix":"10.1111","volume":"106","author":[{"given":"Masoome","family":"Alerasool","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Mashhad University of Medical Sciences  Mashhad Iran"},{"name":"Medical Genetics Research Center Mashhad University of Medical Sciences  Mashhad Iran"},{"name":"Genetic Laboratory Genetic Foundation of Khorasan Razavi  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