{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T12:29:38Z","timestamp":1773923378855,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,6,4]],"date-time":"2019-06-04T00:00:00Z","timestamp":1559606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002660","name":"Islamic Azad University","doi-asserted-by":"publisher","award":["33805"],"award-info":[{"award-number":["33805"]}],"id":[{"id":"10.13039\/501100002660","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>In the present study, we investigate the prevalence of the <jats:italic>GJB<\/jats:italic>2 gene mutations, and deletions in the <jats:italic>GJB<\/jats:italic>6 gene, namely del (<jats:italic>GJB<\/jats:italic>6\u2010D13S1830) and del (<jats:italic>GJB<\/jats:italic>6\u2010D13S1854), in patients with autosomal recessive non\u2010syndromic hearing loss (ARNSHL) from the central region of Iran.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>One hundred and thirty\u2010one unrelated ARNSHL cases from the central part of Iran were recruited. Among them, 81% (106 cases) had at least two affected relatives. Coding and noncoding regions of the <jats:italic>GJB<\/jats:italic>2 gene were sequenced. Multiplex PCR was used for analysis of del (<jats:italic>GJB<\/jats:italic>6\u2010D13S1830) and del (<jats:italic>GJB<\/jats:italic>6\u2010D13S1854) deletions in <jats:italic>GJB<\/jats:italic>6.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The <jats:italic>GJB<\/jats:italic>2 variants were found in 16.79% (22\/131) of the patients. The pathogenic variants were 21\/131 (16.03%). The nonpathogenic variants were 1\/131 (0. 07%). Allele frequency of the c.35delG as the pathogenic variant was the most common with 59.52% (25\/42). The remaining pathogenic variants were c.235delC, p.T8M, p.R32H, p.R143Q, p.R143W, c\u201023+1G&gt;A. The only nonpathogenic variant was polymorphism p.V27I. Further segregation analysis showed that variant of p.R143Q might have incomplete penetrance. None of the patients had targeted deletions in the <jats:italic>GJB<\/jats:italic>6 gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In comparison with reports from other areas of Iran, c.35delG demonstrates the highest frequency within the central region (accounting for 57.14% of cases), probably resulting from the founder effect and consanguineous marriage. The pathology of ARNSHL in such patients could be attributed to defects in Connexin 26 encoded by <jats:italic>GJB<\/jats:italic>2.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.780","type":"journal-article","created":{"date-parts":[[2019,6,4]],"date-time":"2019-06-04T16:36:25Z","timestamp":1559666185000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Frequency of <i>GJB<\/i>2 mutations, <i>GJB<\/i>6\u2010D13S1830 and <i>GJB<\/i>6\u2010D13S1854 deletions among patients with non\u2010syndromic hearing loss from the central region of Iran"],"prefix":"10.1002","volume":"7","author":[{"given":"Hossein","family":"Naddafnia","sequence":"first","affiliation":[{"name":"Department of Biology, Science and Research Branch Islamic Azad University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3890-9001","authenticated-orcid":false,"given":"Zahra","family":"Noormohammadi","sequence":"additional","affiliation":[{"name":"Department of Biology, Science and Research Branch Islamic Azad University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiva","family":"Irani","sequence":"additional","affiliation":[{"name":"Department of Biology, Science and Research Branch Islamic Azad University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iman","family":"Salahshoorifar","sequence":"additional","affiliation":[{"name":"Department of Biology, Science and Research Branch Islamic Azad University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,6,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.1.41"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32765"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2009.0026"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2011.09.024"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.5935\/1808-8694.20130016"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.24332"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/18.4.911"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.2741\/3910"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028324"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa012052"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.12.2173"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2007.02.007"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20588"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.11.006"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.10916"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200826"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200406"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10621"},{"key":"e_1_2_10_20_1","first-page":"1","article-title":"Familial and sporadic GJB2\u2010related deafness in Iran: Review of gene mutations, Iran","volume":"36","author":"Hashemzadeh C. 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