{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:51:42Z","timestamp":1759971102992,"version":"build-2065373602"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,26]],"date-time":"2019-12-26T00:00:00Z","timestamp":1577318400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Local Government Foundation","award":["2016JJ6144","201558"],"award-info":[{"award-number":["2016JJ6144","201558"]}]},{"name":"the National Basic Research Program of China","award":["2012CB967904"],"award-info":[{"award-number":["2012CB967904"]}]}],"content-domain":{"domain":["anatomypubs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Anatomical Record"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Deafness gene variants play a key role in inner ear malformations. However, the relationship between congenital middle ear malformations and common deafness genes (<jats:italic>GJB2<\/jats:italic>, <jats:italic>SLC26A4<\/jats:italic>, and <jats:italic>mtDNA<\/jats:italic>) in profound sensorineural hearing loss (SNHL) child patients remains poorly investigated. Here we showed that there was no statistical significance in the total mutation frequency of the three common deafness genes in the middle ear malformation group (21.2%, 41\/193) in comparison with the normal middle ear and inner ear group (21.0%, 116\/553) (<jats:italic>\u03c7<\/jats:italic><jats:sup>2<\/jats:sup> = 0.0061, <jats:italic>p<\/jats:italic> = 0.940). Moreover, the mutation ratio of <jats:italic>GJB2<\/jats:italic> and <jats:italic>SLC26A4<\/jats:italic> in the middle ear malformation group (18.7%, 36\/193; 2.6%, 5\/193) was not significantly different from that in the normal middle ear and inner ear group (17.7%, 98\/553; 2.4%, 13\/553) (<jats:italic>\u03c7<\/jats:italic><jats:sup>2<\/jats:sup> = 0.084, <jats:italic>p<\/jats:italic> = 0.772; <jats:italic>\u03c7<\/jats:italic><jats:sup>2<\/jats:sup> = 0.0000, <jats:italic>p<\/jats:italic> = 1.000). The mutation ratio of <jats:italic>GJB2<\/jats:italic> 235delC and <jats:italic>GJB2<\/jats:italic> 79G&gt;A in the middle ear malformation group (8.8%, 17\/193; 8.8%, 17\/193) was almost the same to that in the normal middle ear and inner ear group (8.6%, 48\/553; 6.7%, 37\/553) (<jats:italic>\u03c7<\/jats:italic><jats:sup>2<\/jats:sup> = 0.0030, <jats:italic>p<\/jats:italic> = 0.957; \u03c7<jats:sup>2<\/jats:sup> = 0.9556, <jats:italic>p<\/jats:italic> = 0.328). The high jugular bulb subgroup analysis also showed the same results. Our findings suggested that <jats:italic>GJB2<\/jats:italic>, <jats:italic>SLC26A4<\/jats:italic>, and <jats:italic>mtDNA<\/jats:italic> mutations might not be related to the middle ear malformations in profound SNHL child patients. Anat Rec, 303:594\u2013599, 2020. \u00a9 2019 American Association for Anatomy<\/jats:p>","DOI":"10.1002\/ar.24330","type":"journal-article","created":{"date-parts":[[2019,12,26]],"date-time":"2019-12-26T05:26:01Z","timestamp":1577337961000},"page":"594-599","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Congenital Middle Ear Malformation with Common Deafness Gene Mutation Analysis: A Review of 813 Profound Sensorineural Hearing Loss Child Patients"],"prefix":"10.1002","volume":"303","author":[{"given":"Yunpeng","family":"Dong","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2014Head &amp; Neck Surgery Institute of Otology, The Second Xiangya Hospital, Central South University  Changsha Hunan China"},{"name":"Department of Otolaryngology\u2014Head &amp; Neck surgery The Affiliated Hospital of Xiangnan University  Chenzhou Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangbo","family":"He","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head &amp; Neck Surgery Institute of Otology, The Second Xiangya Hospital, Central South University  Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weijing","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head &amp; Neck Surgery Institute of Otology, The Second Xiangya Hospital, Central South University  Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head &amp; Neck Surgery Institute of Otology, The Second Xiangya Hospital, Central South University  Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anquan","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head &amp; Neck Surgery Institute of Otology, The Second Xiangya Hospital, Central South University  Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zian","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head &amp; Neck Surgery Institute of Otology, The Second Xiangya Hospital, Central South University  Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuyuan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head &amp; Neck Surgery Institute of Otology, The Second Xiangya Hospital, Central South University  Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuichao","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head &amp; Neck Surgery Institute of Otology, The Second Xiangya Hospital, Central South University  Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donghui","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head &amp; Neck Surgery Leonard M. Miller School of Medicine, University of Miami  Miami Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue Zhong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head &amp; Neck Surgery Institute of Otology, The Second Xiangya Hospital, Central South University  Changsha Hunan China"},{"name":"Department of Otolaryngology\u2014Head &amp; Neck surgery The Affiliated Hospital of Xiangnan University  Chenzhou Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinghua","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2014Head &amp; Neck Surgery Institute of Otology, The Second Xiangya Hospital, Central South University  Changsha Hunan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00276-013-1196-z"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1116"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.otc.2015.06.005"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2008.08.002"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31706"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3106"},{"key":"e_1_2_8_8_1","first-page":"885","article-title":"Cochlear implant approach in children patients with sigmoid sinus antedisplacement","volume":"22","author":"Ma X","year":"2008","journal-title":"Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2017.00236"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra050700"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genet.35.102401.091224"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2014.0241"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2011.11.009"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30053"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/0003489415575060"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2018.00221"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2015.04.016"}],"container-title":["The Anatomical Record"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Far.24330","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ar.24330","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ar.24330","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/anatomypubs.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ar.24330","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T12:23:48Z","timestamp":1759926228000},"score":1,"resource":{"primary":{"URL":"https:\/\/anatomypubs.onlinelibrary.wiley.com\/doi\/10.1002\/ar.24330"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,26]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1002\/ar.24330"],"URL":"https:\/\/doi.org\/10.1002\/ar.24330","archive":["Portico"],"relation":{},"ISSN":["1932-8486","1932-8494"],"issn-type":[{"type":"print","value":"1932-8486"},{"type":"electronic","value":"1932-8494"}],"subject":[],"published":{"date-parts":[[2019,12,26]]},"assertion":[{"value":"2018-12-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}