{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T06:25:11Z","timestamp":1762410311772,"version":"3.41.2"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T00:00:00Z","timestamp":1707782400000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We aimed to evaluate the genotype\u2013phenotype relationship in two Chinese family members with enlarged vestibular aqueduct (EVA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We collected blood samples and clinical data from each pedigree family member. Genomic DNA was isolated from peripheral leukocytes using standard methods. Targeted next\u2010generation sequencing and Sanger sequencing were performed to find the pathogenic mutation in this family. Minigene assays were used to verify whether the novel intronic mutation <jats:italic>SLC26A4<\/jats:italic>c.765+4A&gt;G influenced mRNA splicing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Hearing loss in the patients with EVA was diagnosed using auditory tests and imaging examinations. Two pathogenic mutations, c.765+4A&gt;G and c.919\u20102A&gt;G were detected in <jats:italic>SLC26A4<\/jats:italic>. In\u00a0vitro minigene analysis confirmed that c.765+4A&gt;G variant could cause aberrant splicing, resulting in skipping over exon 6.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The <jats:italic>SLC26A4<\/jats:italic>c.765+4A&gt;G mutation is the causative variant in the Chinese family with EVA. Particular attention should be paid to intronic variants.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2361","type":"journal-article","created":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T12:40:00Z","timestamp":1707828000000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts"],"prefix":"10.1002","volume":"12","author":[{"given":"Suyang","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery Lanzhou University Second Hospital  Lanzhou Gansu PR China"},{"name":"Department of Otolaryngology\u2010Head and Neck Surgery Maternal and Child Health Hospital of Gansu Province  Lanzhou Gansu 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