{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T16:35:53Z","timestamp":1780590953226,"version":"3.54.1"},"reference-count":23,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T00:00:00Z","timestamp":1681776000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>GJB2<\/jats:italic> mutations are among the most important causes of deafness, and their prevalence varies greatly among different countries and ethnic groups. This study aimed to determine the pathogenic mutation spectrum of <jats:italic>GJB2<\/jats:italic> in patients with nonsyndromic hearing loss (NSHL) in Western Guangdong and to explore the pathogenic characteristics of the c.109G&gt;A locus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In total, 97 NSHL patients and 212 normal controls (NC) were included in this study. Genetic sequencing analyses were performed on <jats:italic>GJB2<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the NSHL group, the main pathogenic mutations in <jats:italic>GJB2<\/jats:italic> were as follows: c.109G&gt;A, c.235delC, and c.299_300delAT with allele frequencies of 9.28%, 4.12%, and 2.06%, respectively. c.109G&gt;A was the most frequently detected pathogenic mutation in this region. In the NC group, the allele frequency of c.109G&gt;A among 30\u201350\u2009years old subjects was markedly lower than that among 0\u201330\u2009years old subjects (5.31% vs. 11.11%, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We found the pathogenic mutation spectrum of <jats:italic>GJB2<\/jats:italic> in this region and showed that c.109G&gt;A was the most common <jats:italic>GJB2<\/jats:italic> mutation with unique characteristics, such as clinical phenotypic heterogeneity and delayed onset. Therefore, the c.109G&gt;A mutation should be considered as an essential marker for routine genetic assessment of deafness, which can also be beneficial for preventing deafness.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2185","type":"journal-article","created":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T13:04:52Z","timestamp":1681823092000},"source":"Crossref","is-referenced-by-count":10,"title":["Analysis of <scp><i>GJB2<\/i><\/scp> gene mutations spectrum and the characteristics of individuals with c.<scp>109G<\/scp>&gt;A in Western Guangdong"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8914-9471","authenticated-orcid":false,"given":"Shaoming","family":"Liang","sequence":"first","affiliation":[{"name":"School of Basic Medical Science Zhaoqing Medical College  Zhaoqing P.R. China"},{"name":"School of Basic Medical Science Central South University  Changsha P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weihong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Zhaoqing No.2 People's Hospital  Zhaoqing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhichao","family":"Chen","sequence":"additional","affiliation":[{"name":"School of Basic Medical Science Zhaoqing Medical College  Zhaoqing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shimin","family":"Yuan","sequence":"additional","affiliation":[{"name":"Reproductive and Genetic Hospital of CITIC\u2010Xiangya  Changsha P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhao","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Basic Medical Science Zhaoqing Medical College  Zhaoqing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,18]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.1.41"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12387"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.003"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479\u20105876\u20107\u201026"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/gim.0b013e31804d2371"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/03000605211000892"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2018.02.015"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0129662"},{"issue":"11","key":"e_1_2_12_10_1","first-page":"21674","article-title":"Prevalence of p.V37I variant of GJB2 among Chinese infants with mild or moderate hearing loss","volume":"8","author":"Huang Y.","year":"2015","journal-title":"International Journal of Clinical and Experimental Medicine"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/301807"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817\u2010200207000\u201000004"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0061592"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.18632\/aging.102246"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2020.108135"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2020.110143"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003446\u2010200506000\u201000011"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2014.0241"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100535\u20109"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.17325"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2010.01407.x"},{"key":"e_1_2_12_22_1","volume-title":"Deafness and hearing loss","author":"World Health Organization","year":"2021"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.66"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u20101311\u20102"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2185","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,12]],"date-time":"2023-08-12T07:11:22Z","timestamp":1691824282000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2185"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,18]]},"references-count":23,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.1002\/mgg3.2185"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2185","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,18]]},"article-number":"e2185"}}