{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T05:35:00Z","timestamp":1784957700050,"version":"3.55.0"},"reference-count":45,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,8,30]],"date-time":"2020-08-30T00:00:00Z","timestamp":1598745600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The extremely high genetic heterogeneity of hearing loss due to diverse group of genes encoding proteins required for development, function, and maintenance of the complex auditory system makes the genetic diagnosis of this disease challenging. Up to now, 121 different genes have been identified for nonsyndromic hearing loss (NSHL), of which 76 genes are responsible for the most common forms of NSHL, autosomal recessive nonsyndromic hearing loss (ARNSHL).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>After excluding mutations in the most common ARNSHL gene, <jats:italic>GJB2<\/jats:italic>, by Sanger sequencing, genetic screening for a panel of genes responsible for hereditary hearing impairment performed in 9 individuals with ARNSHL from unrelated Iranian consanguineous pedigrees.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One compound heterozygote and eight homozygote variants, of which five are novel, were identified: <jats:italic>CDH23:<\/jats:italic>p.(Glu1970Lys), and p.(Ala1072Asp), <jats:italic>GIPC3<\/jats:italic>:p.(Asn82Ser), and (p.Thr41Lys), <jats:italic>MYO7A<\/jats:italic>:p.[Phe456Phe]; p.[Met708Val], and p.(Gly163Arg), <jats:italic>TECTA<\/jats:italic>:p.(Leu17Leufs*19), <jats:italic>OTOF:<\/jats:italic>c.1392+1G&gt;A, and <jats:italic>TRIOBP<\/jats:italic>:p.(Arg1068*). Sanger sequencing confirmed the segregation of the variants with the disease in each family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Finding more variants and expanding the spectrum of hearing impairment mutations can increase the diagnostic value of molecular testing in the screening of patients and can improve counseling to minimize the risk of having affected children for at risk couples.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23544","type":"journal-article","created":{"date-parts":[[2020,8,31]],"date-time":"2020-08-31T05:23:26Z","timestamp":1598851406000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next\u2010generation sequencing"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4489-2923","authenticated-orcid":false,"given":"Fatemeh","family":"Bitarafan","sequence":"first","affiliation":[{"name":"Department of Biology Faculty of Biological Sciences Islamic Azad University, North Tehran Branch Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed Yousef","family":"Seyedena","sequence":"additional","affiliation":[{"name":"Department of Biology Faculty of Biological Sciences Islamic Azad University, North Tehran Branch Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahdi","family":"Mahmoudi","sequence":"additional","affiliation":[{"name":"Rheumatology Research Center Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5508-7903","authenticated-orcid":false,"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Teheran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,30]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"crossref","volume-title":"Precision health and deafness\u2013optimizing genetic diagnosis","author":"Sloan\u2010Heggen CM","DOI":"10.17077\/etd.m2736yd7"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.96"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103389"},{"key":"e_1_2_8_5_1","first-page":"720","article-title":"Heterogeneity of hereditary hearing loss in Iran: a comprehensive review","volume":"19","author":"Beheshtian 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