{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T17:54:29Z","timestamp":1769277269423,"version":"3.49.0"},"reference-count":24,"publisher":"American Speech Language Hearing Association","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Audiol"],"published-print":{"date-parts":[[2020,6,8]]},"abstract":"\n Purpose<\/jats:title>\n The aim of this study was to determine the rate of deafness gene mutations in the Foshan area of South China.<\/jats:p>\n <\/jats:sec>\n \n Method<\/jats:title>\n \n We enrolled the infants delivered in Foshan Maternity and Children's Healthcare Hospital. Deafness gene mutation was detected by HibriMax method. Our study tested 47,538 newborns within 3 days after birth, including 13 sites in four genes:\n GJB2<\/jats:italic>\n (c.35 del G, c.176 del 16, c.235 del C, c.299 del AT, c.155 del TCTG),\n GJB3<\/jats:italic>\n (c.583 C>T),\n SLC26A4<\/jats:italic>\n (c.2168 A>G, c.919-2 A>G, c.1299 C>T), and\n mtDNA 12S rRNA<\/jats:italic>\n (m.1555 A>G, m.1494 C>T, m.12201 T>C, m.7445 A>G). The birth condition of infants was collected, including sex, low or high birth weight, twins, and premature delivery.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In a total of 47,538 newborns, 1,415 were positively identified with deafness gene mutations. The total rate of the deafness gene mutation was 2.976%. The carrier rates of\n GJB2<\/jats:italic>\n (c.35 del G, c.176 del 16, c.235 del C, c.299 del AT, c.155 del TCTG),\n GJB3<\/jats:italic>\n (c.583 C>T),\n SLC26A4<\/jats:italic>\n (c.2168 A>G, c.919-2 A>G, c.1299 C>T), and\n mtDNA 12S rRNA<\/jats:italic>\n (m.1555 A>G, m.1494 C>T, m.12201 T>C, m.7445 A>G) mutations were 0.000%, 0.048%, 1.422%, 0.185%, 0.000%, 0.076%, 0.116%, 0.755%, 0.160%, 0.187%, 0.021%, 0.000%, and 0.006%, respectively.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Our study showed that the c.235 del C\n GJB2<\/jats:italic>\n mutation was the leading deafness-related mutation in the Foshan area of South China. Deafness gene mutations screening in newborns detected by bloodspot-based genetic screening tests can help the diagnosis of newborn congenital hearing loss.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1044\/2020_aja-19-00094","type":"journal-article","created":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T19:23:40Z","timestamp":1585164220000},"page":"165-169","source":"Crossref","is-referenced-by-count":6,"title":["Deafness Gene Mutations in Newborns in the Foshan Area of South China With Bloodspot-Based Genetic Screening Tests"],"prefix":"10.1044","volume":"29","author":[{"given":"Shunwang","family":"Cao","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, The Second Clinical College of Guangzhou University of Chinese Medicine, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhua","family":"Sha","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The Second Clinical College of Guangzhou University of Chinese Medicine, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peifeng","family":"Ke","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The Second Clinical College of Guangzhou University of Chinese Medicine, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tingting","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The Second Clinical College of Guangzhou University of Chinese Medicine, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weixi","family":"Yuan","sequence":"additional","affiliation":[{"name":"Foshan Neonate Disease Screening Center, Foshan Maternity and Children's Healthcare Hospital, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianzhang","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The Second Clinical College of Guangzhou University of Chinese Medicine, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1310","reference":[{"key":"e_1_3_2_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.2"},{"key":"e_1_3_2_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bmb\/63.1.73"},{"issue":"3","key":"e_1_3_2_4_1","first-page":"315","article-title":"Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss","volume":"25","author":"Choi S.-Y.","year":"2010","journal-title":"International Journal of Molecular Medicine"},{"key":"e_1_3_2_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.003"},{"key":"e_1_3_2_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0195740"},{"key":"e_1_3_2_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf067"},{"key":"e_1_3_2_8_1","doi-asserted-by":"publisher","DOI":"10.1044\/2017_AJA-17-0042"},{"key":"e_1_3_2_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2008.08.002"},{"key":"e_1_3_2_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.07.019"},{"key":"e_1_3_2_11_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2014.2148"},{"issue":"1","key":"e_1_3_2_12_1","first-page":"413","article-title":"Gene mutation analysis and genetic counseling for patients with non-syndromic hearing loss in Linyi region","volume":"17","author":"Li H.","year":"2019","journal-title":"Experimental and Therapeutic Medicine"},{"key":"e_1_3_2_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380200106"},{"key":"e_1_3_2_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2018.02.064"},{"key":"e_1_3_2_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2015.02.010"},{"key":"e_1_3_2_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200009000-00023"},{"key":"e_1_3_2_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep09906"},{"key":"e_1_3_2_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318226fc2e"},{"key":"e_1_3_2_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12070-015-0882-z"},{"key":"e_1_3_2_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.65"},{"key":"e_1_3_2_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2016.250"},{"key":"e_1_3_2_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.66"},{"key":"e_1_3_2_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-57"},{"key":"e_1_3_2_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054635"},{"key":"e_1_3_2_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.537"}],"container-title":["American Journal of Audiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/pubs.asha.org\/doi\/pdf\/10.1044\/2020_AJA-19-00094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,18]],"date-time":"2021-04-18T21:55:43Z","timestamp":1618782943000},"score":1,"resource":{"primary":{"URL":"http:\/\/pubs.asha.org\/doi\/10.1044\/2020_AJA-19-00094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,8]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,6,8]]}},"alternative-id":["10.1044\/2020_AJA-19-00094"],"URL":"https:\/\/doi.org\/10.1044\/2020_aja-19-00094","relation":{},"ISSN":["1059-0889","1558-9137"],"issn-type":[{"value":"1059-0889","type":"print"},{"value":"1558-9137","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,8]]}}}