{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T12:29:35Z","timestamp":1773923375549,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2018,6,21]],"date-time":"2018-06-21T00:00:00Z","timestamp":1529539200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81500802"],"award-info":[{"award-number":["81500802"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81700912"],"award-info":[{"award-number":["81700912"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2018,11]]},"abstract":"Background<\/jats:title>Genetic analysis detected excessive mono\u2010allelic recessive GJB<\/jats:styled-content>2<\/jats:italic> mutations in individuals with idiopathic deafness; the remaining alleles in trans\/cis are underdetermined. The aim of this study was to assess the contributions of variants in GJB<\/jats:styled-content>3<\/jats:italic> or GJB<\/jats:styled-content>6<\/jats:italic> to non\u2010syndromic sensorineural hearing impairment (NSHI<\/jats:styled-content>) in Chinese patients with mono\u2010allelic GJB<\/jats:styled-content>2<\/jats:italic> mutations.<\/jats:p><\/jats:sec>Methods<\/jats:title>The entire coding sequences of GJB<\/jats:styled-content>3<\/jats:italic>\/GJB<\/jats:styled-content>6<\/jats:italic>, as well as deletions in GJB<\/jats:styled-content>6<\/jats:italic>, in a cohort of NSHI<\/jats:styled-content> patients (n\u00a0=\u00a0100) carrying likely pathogenic heterozygous GJB<\/jats:styled-content>2<\/jats:italic> mutations, were tested. Targeted next generation sequencing was further performed in a multiplex family GDHY<\/jats:styled-content> with moderate to profound NSHI<\/jats:styled-content>.<\/jats:p><\/jats:sec>Results<\/jats:title>Putatively causative GJB<\/jats:styled-content>3<\/jats:italic> variant underlied 1% (1\/100) in this cohort. In family GDHY<\/jats:styled-content>, we identified a rare GJB<\/jats:styled-content>3<\/jats:italic> c.250G>A mutation, as double heterozygotes with GJB<\/jats:styled-content>2<\/jats:italic> c.109G>A and\/or a novel GJB<\/jats:styled-content>2<\/jats:italic> mutation c.638T>C predicted to be damaging in a digenic inheritance after precluding other attributable mutations from 127 deafness genes. No GJB<\/jats:styled-content>6<\/jats:italic> mutation was found.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>GJB<\/jats:styled-content>3<\/jats:italic>\/GJB<\/jats:styled-content>6<\/jats:italic> variants account for a low proportion in autosomal recessive GJB<\/jats:styled-content>2<\/jats:italic> mutation carriers in our cohort. Environmental causes, or other NSHI<\/jats:styled-content> relevant genes, revealed by targeted next generation sequencing or whole exome sequencing, may play major roles in triggering deafness in these patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.22592","type":"journal-article","created":{"date-parts":[[2018,6,21]],"date-time":"2018-06-21T09:59:50Z","timestamp":1529575190000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["GJB<\/scp>3<\/i>\/GJB<\/scp>6<\/i> screening in GJB<\/scp>2<\/i> carriers with idiopathic hearing loss: Is it necessary?"],"prefix":"10.1002","volume":"32","author":[{"given":"Kaitian","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology The First Affiliated Hospital Sun Yat\u2010sen University Guangzhou China"},{"name":"Institute of Otorhinolaryngology Sun Yat\u2010sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology The First Affiliated Hospital Sun Yat\u2010sen University Guangzhou China"},{"name":"Institute of Otorhinolaryngology Sun Yat\u2010sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Zong","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology The Second Affiliated Hospital of Guangzhou Medical University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1308-5042","authenticated-orcid":false,"given":"Hongyan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Hainan General Hospital Haikou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,6,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00232-005-0832-x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)01166-5"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-12-64"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-7-26"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051007"},{"key":"e_1_2_7_7_1","first-page":"e302914","article-title":"Unraveling of enigmatic hearing\u2010impaired GJB2 single heterozygotes by massive parallel sequencing: DFNB1 or not?","volume":"95","author":"Kim SY","year":"2016","journal-title":"Medicine (Baltimore)."},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0021665"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0602-9"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2009.08.152"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00031.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.1.63"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200407"},{"key":"e_1_2_7_14_1","first-page":"198","article-title":"GJB3 and GJB6 genes screening in 200 non\u2010syndromic hearing impairment patients","volume":"20","author":"Chen K","year":"2012","journal-title":"J Audiol Speech Pathol"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn966"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti770"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2012.12.022"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-7-79"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.05.009"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/302012"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-172"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.65"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-85"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2015.04.002"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2016.09.010"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2008.07.015"},{"key":"e_1_2_7_27_1","first-page":"2765","article-title":"Identification and genotype\/phenotype correlation of mutations in a large German cohort with hearing loss","volume":"272","author":"Beck C","year":"2015","journal-title":"Eur Arch Otorhinolaryngol"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1159\/000099024"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.3109\/14992027.2011.603757"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.07.050"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcla.22592","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.22592","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.22592","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.22592","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T09:36:27Z","timestamp":1693820187000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.22592"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,21]]},"references-count":29,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1002\/jcla.22592"],"URL":"https:\/\/doi.org\/10.1002\/jcla.22592","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,21]]},"assertion":[{"value":"2018-05-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e22592"}}