{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:00Z","timestamp":1753869720006,"version":"3.41.2"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,3,7]],"date-time":"2025-03-07T00:00:00Z","timestamp":1741305600000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003819","name":"Natural Science Foundation of Hubei Province","doi-asserted-by":"publisher","award":["no. 2018CFB719"],"award-info":[{"award-number":["no. 2018CFB719"]}],"id":[{"id":"10.13039\/501100003819","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>KCNQ4<\/jats:italic> is a common genetic cause of nonsyndromic autosomal dominant hearing loss. We have identified the family in China with a <jats:italic>KCNQ4<\/jats:italic> (c.701A&gt;G; p.His234Arg) missense variation. In this study, a survey and analysis were performed to investigate the audiological and genetic characteristics of the Chinese family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The medical history of family members was collected, and the family members underwent pure tone audiometry, acoustic immittance, and physical examination. The proband was additionally examined by ABR (auditory brainstem response) and DPOAE (distortion product otoacoustic emission). DNA samples from family members were collected, and the possible causative gene of the proband was detected by whole\u2010exome sequencing (WES), which was verified by Sanger sequencing in family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The inheritance pattern of the family was an autosomal dominant nonsyndromic type. The hearing loss was characterized by postlingual deafness, high\u2010frequency hearing loss in the early stage, gradually involving the full frequency. About 32\u201340\u2009years of age, the hearing gradually became stable, the decline rate slowed down, and the final degree of hearing loss was severe. WES results showed that the <jats:italic>KCNQ4<\/jats:italic> gene had a missense variation (c.701A&gt;G; p.His234Arg).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This family has autosomal dominant nonsyndromic hereditary hearing loss caused by a variation in the <jats:italic>KCNQ4<\/jats:italic> gene, characterized by high\u2010frequency hearing loss.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70075","type":"journal-article","created":{"date-parts":[[2025,3,9]],"date-time":"2025-03-09T01:49:48Z","timestamp":1741484988000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A <scp><i>KCNQ4<\/i><\/scp> Gene Variant (c.<scp>701A<\/scp>\u2009&gt;\u2009G; p.<scp>His234Arg<\/scp>) in a Chinese Family With Nonsyndromic Deafness <scp>2A<\/scp>"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1669-4185","authenticated-orcid":false,"given":"Guo\u2010Qing","family":"Gong","sequence":"first","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command  Wuhan China"},{"name":"Department of Otolaryngology Head and Neck Surgery Wuhan Third Hospital (Tongren Hospital of Wuhan University)  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng\u2010Cheng","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui\u2010Yu","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Liyuan Hospital Affiliated to Tongji Medical College Huazhong University of Science and Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang\u2010Liang","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guang","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui\u2010Fang","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue\u2010Bin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing\u2010Yuan","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui\u2010Yao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Li\u2010Wang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi\u2010Ming","family":"Ji","sequence":"additional","affiliation":[{"name":"Courant Institute of Mathematical Sciences New York University  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1890-5599","authenticated-orcid":false,"given":"Yi","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Lu","sequence":"additional","affiliation":[{"name":"Institute of Rare Diseases Sichuan University West China Hospital  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,3,7]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_8_2_1","DOI":"10.3390\/biomedicines11061616"},{"doi-asserted-by":"publisher","key":"e_1_2_8_3_1","DOI":"10.1016\/j.bbadis.2010.09.001"},{"doi-asserted-by":"publisher","key":"e_1_2_8_4_1","DOI":"10.2471\/BLT.21.285643"},{"doi-asserted-by":"publisher","key":"e_1_2_8_5_1","DOI":"10.1111\/cge.14164"},{"doi-asserted-by":"publisher","key":"e_1_2_8_6_1","DOI":"10.1007\/s00439\u2010021\u201002425\u20106"},{"doi-asserted-by":"publisher","key":"e_1_2_8_7_1","DOI":"10.1007\/s00438\u2010022\u201001926\u2010x"},{"doi-asserted-by":"publisher","key":"e_1_2_8_8_1","DOI":"10.1097\/EDE.0b013e318245996e"},{"doi-asserted-by":"publisher","key":"e_1_2_8_9_1","DOI":"10.1007\/s00439\u2010021\u201002354\u20104"},{"doi-asserted-by":"publisher","key":"e_1_2_8_10_1","DOI":"10.1093\/bioinformatics\/btp324"},{"doi-asserted-by":"publisher","key":"e_1_2_8_11_1","DOI":"10.1016\/j.molcel.2020.10.037"},{"doi-asserted-by":"publisher","key":"e_1_2_8_12_1","DOI":"10.1093\/bioinformatics\/btr667"},{"doi-asserted-by":"publisher","key":"e_1_2_8_13_1","DOI":"10.1097\/WNR.0000000000001883"},{"doi-asserted-by":"publisher","key":"e_1_2_8_14_1","DOI":"10.1101\/gr.107524.110"},{"doi-asserted-by":"publisher","key":"e_1_2_8_15_1","DOI":"10.1371\/journal.pone.0063231"},{"doi-asserted-by":"publisher","key":"e_1_2_8_16_1","DOI":"10.7150\/thno.67781"},{"doi-asserted-by":"publisher","key":"e_1_2_8_17_1","DOI":"10.1016\/j.bmcl.2019.08.007"},{"doi-asserted-by":"publisher","key":"e_1_2_8_18_1","DOI":"10.1038\/s41419\u2010022\u201004915\u20105"},{"doi-asserted-by":"publisher","key":"e_1_2_8_19_1","DOI":"10.3389\/fgene.2022.921324"},{"doi-asserted-by":"publisher","key":"e_1_2_8_20_1","DOI":"10.1038\/gim.2015.30"},{"doi-asserted-by":"publisher","key":"e_1_2_8_21_1","DOI":"10.1101\/cshperspect.a033258"},{"doi-asserted-by":"publisher","key":"e_1_2_8_22_1","DOI":"10.1038\/hgv.2015.38"},{"doi-asserted-by":"publisher","key":"e_1_2_8_23_1","DOI":"10.1021\/acsmedchemlett.8b00315"},{"doi-asserted-by":"publisher","key":"e_1_2_8_24_1","DOI":"10.1371\/journal.pone.0029500"},{"doi-asserted-by":"publisher","key":"e_1_2_8_25_1","DOI":"10.1371\/journal.pone.0035500"},{"doi-asserted-by":"publisher","key":"e_1_2_8_26_1","DOI":"10.13201\/j.issn.2096\u20107993.2023.01.005"},{"doi-asserted-by":"publisher","key":"e_1_2_8_27_1","DOI":"10.1101\/gr.276562.122"},{"doi-asserted-by":"publisher","key":"e_1_2_8_28_1","DOI":"10.1016\/j.neuron.2021.10.029"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70075","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,20]],"date-time":"2025-04-20T08:28:39Z","timestamp":1745137719000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70075"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1002\/mgg3.70075"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70075","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2025,3]]},"assertion":[{"value":"2024-08-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70075"}}