{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T02:52:38Z","timestamp":1769136758508,"version":"3.49.0"},"reference-count":0,"publisher":"Caleo","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Int Adv Otol."],"abstract":"<jats:p>BACKGROUND: The aim of this study is to compare the spectrum and frequency of GJB2, SLC26A4, GJB3, and MT-RNR1 mutations in 4 different areas of China.\nMETHODS: A total of 509 patients from Linyi, Xinxiang, Yichang, and Baise were enrolled in this study. Twenty of the most common mutation sites were analyzed by matrix-assisted laser desorption\/ionization time-of-flight mass spectrometry.\nRESULTS: Patients from Yichang (in central China; 22.50%) and Linyi (in eastern China; 23.55%) carried a greater proportion of the 5 most common GJB2 mutations compared with patients from the other 2 areas surveyed, namely Xinxiang (in the North China Plain) and Baise (in south-central China). In comparison, patients from Yichang (10.00%) and Xinxiang (12.94%) had a higher prevalence of the 11 most common SLC26A4 mutations. Interestingly, only 1 patient (1.47%) from Baise was confirmed to carry the c.1229C&gt;T mutation of SLC26A4. Among the 20 mutation sites analyzed across these 4 genes, c.235delC in GJB2 and c.919-2A&gt;G in SLC26A4 were the most common mutations across all 4 geographical regions. The c.235delC mutation in GJB2 was significantly more prevalent in Yichang (18.13%) and Linyi (18.31%) than in the other 2 areas, whereas the c.919-2A&gt;G allele of SLC26A4 was present at much higher frequencies in Yichang (8.44%) and Xinxiang (8.74%) compared with the other areas.\nCONCLUSIONS: This study increases the available data on hearing loss-associated mutations and provides evidence of the need for risk assessment and genetic counseling of populations from these 4 areas of China.\nCite this article as: Wang Y, Chen W, Liu Z, Xing W, Zhang H. Comparison of the mutation spectrum of common deafness-causing genes in 509 patients with nonsyndromic hearing loss in four different areas of china by matrix-assisted laser desorption\/ionization time-of-flight mass spectrometry. J Int Adv Otol. 2021;17(6):492-499.<\/jats:p>","DOI":"10.5152\/iao.2021.21086","type":"journal-article","created":{"date-parts":[[2021,12,22]],"date-time":"2021-12-22T04:16:57Z","timestamp":1640146617000},"page":"492-499","source":"Crossref","is-referenced-by-count":2,"title":["Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser Desorption\/Ionization Time-of-Flight Mass Spectrometry"],"prefix":"10.65717","volume":"17","author":[{"given":"Yi","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wencheng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhizhong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Xing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"55248","published-online":{"date-parts":[[2021,11,1]]},"container-title":["The Journal of International Advanced Otology"],"original-title":[],"link":[{"URL":"https:\/\/www.advancedotology.org\/index.php\/pub\/article\/download\/1574\/1572","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.advancedotology.org\/index.php\/pub\/article\/download\/1573\/1570","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.advancedotology.org\/index.php\/pub\/article\/download\/1573\/1570","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T10:39:02Z","timestamp":1769078342000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.advancedotology.org\/index.php\/pub\/article\/view\/1573"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,1]]},"references-count":0,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2021,12,16]]}},"URL":"https:\/\/doi.org\/10.5152\/iao.2021.21086","relation":{},"ISSN":["2148-3817"],"issn-type":[{"value":"2148-3817","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,1]]}}}