{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T18:46:53Z","timestamp":1761677213278,"version":"3.37.3"},"reference-count":0,"publisher":"Maad Rayan Publishing Company","issue":"3","content-domain":{"domain":["journalaim.com"],"crossmark-restriction":false},"short-container-title":["Arch Iran Med"],"published-print":{"date-parts":[[2023,3,1]]},"abstract":"<jats:p>Genetic analysis of non-syndromic hearing loss (NSHL) has been challenged due to marked clinical and genetic heterogeneity. Today, advanced next-generation sequencing (NGS) technologies, such as exome sequencing (ES), have drastically increased the efficacy of gene identification in heterogeneous Mendelian disorders. Here, we present the utility of ES and re-evaluate the phenotypic data for identifying candidate causal variants for previously unexplained progressive moderate to severe NSHL in an extended Iranian family. Using this method, we identified a known heterozygous nonsense variant in exon 26 of the DIAPH1 gene (MIM: 602121), which led to \"Deafness, autosomal dominant 1, with or without thrombocytopenia; DFNA1\" (MIM: 124900) in this large family in the absence of GJB2 disease-causing variants and also OtoSCOPE-negative results. To the best of our knowledge, this nonsense variant (NM_001079812.3):c.3610C&gt;T (p.Arg1204Ter) is the first report of the DIAPH1 gene variant for autosomal dominant non-syndromic hearing loss (ADNSHL) in Iran.<\/jats:p>","DOI":"10.34172\/aim.2023.27","type":"journal-article","created":{"date-parts":[[2023,7,31]],"date-time":"2023-07-31T08:27:32Z","timestamp":1690792052000},"page":"176-180","update-policy":"https:\/\/doi.org\/10.34172\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the <i>DIAPH1<\/i> Gene"],"prefix":"10.34172","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1200-4044","authenticated-orcid":true,"given":"Marzieh","family":"Mohseni","sequence":"first","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0177-369X","authenticated-orcid":true,"given":"Yusuf","family":"Mohammadi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farzane","family":"Zare Ashrafi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Ghodratpour","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khadijeh","family":"Jalalvand","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanaz","family":"Arzhangi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mojgan","family":"Babanejad","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Hossein","family":"Azizi","sequence":"additional","affiliation":[{"name":"Associate Professor of Otolaryngology, Academy of Medical Sciences of IR Iran, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimia","family":"Kahrizi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6084-7778","authenticated-orcid":true,"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"20123","published-online":{"date-parts":[[2023,3,1]]},"container-title":["Archives of Iranian Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journalaim.com\/PDF\/aim-26-176.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journalaim.com\/PDF\/aim-26-176.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,31]],"date-time":"2023-07-31T08:27:32Z","timestamp":1690792052000},"score":1,"resource":{"primary":{"URL":"http:\/\/journalaim.com\/Article\/aim-26936"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,1]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,3,1]]},"published-print":{"date-parts":[[2023,3,1]]}},"URL":"https:\/\/doi.org\/10.34172\/aim.2023.27","relation":{},"ISSN":["1029-2977","1735-3947"],"issn-type":[{"type":"print","value":"1029-2977"},{"type":"electronic","value":"1735-3947"}],"subject":[],"published":{"date-parts":[[2023,3,1]]},"assertion":[{"value":"Academy of Medical Sciences of I.R. Iran","name":"journal_owner","label":"Journal Owner"},{"value":"Academy of Medical Sciences of I.R. Iran","name":"journal_publisher","label":"Journal Publisher"},{"value":"2022-11-14","order":1,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}