{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:22:26Z","timestamp":1791246146519,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,10,29]],"date-time":"2009-10-29T00:00:00Z","timestamp":1256774400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Health, Labour and Welfare of Japan","award":["19591960"],"award-info":[{"award-number":["19591960"]}]},{"name":"Ministry of Health, Labour and Welfare of Japan","award":["15790924"],"award-info":[{"award-number":["15790924"]}]},{"name":"Ministry of Health, Labour and Welfare of Japan","award":["14370539"],"award-info":[{"award-number":["14370539"]}]},{"name":"Ministry of Health, Labour and Welfare of Japan","award":["16659462"],"award-info":[{"award-number":["16659462"]}]},{"name":"Ministry of Health, Labour and Welfare of Japan","award":["16012215"],"award-info":[{"award-number":["16012215"]}]},{"name":"Health and Labour Sciences Research Grants"},{"name":"Researches on Sensory and Communicative Disorders","award":["H13-006"],"award-info":[{"award-number":["H13-006"]}]},{"name":"Research on Measures for Intractable Diseases","award":["H14-21"],"award-info":[{"award-number":["H14-21"]}]},{"name":"Research on Measures for Intractable Diseases","award":["17242101"],"award-info":[{"award-number":["17242101"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2010,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives\/Hypothesis:<\/jats:title><jats:p>To describe the audiological profiles in a Japanese family with autosomal dominant hereditary sensorineural hearing loss (SNHL) and to identify the causative gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design:<\/jats:title><jats:p>A family study at an academic tertiary referral center.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>A family with autosomal dominant hereditary SNHL was enrolled. Hearing loss (HL) of affected members showed mid\u2010frequency SNHL in childhood and progressed at lower frequencies with age, resulting in low\u2010frequency SNHL. To understand the pathology of HL of this family, we performed a genetic analysis of <jats:italic>WFS1<\/jats:italic>, <jats:italic>TECTA<\/jats:italic>, and <jats:italic>GJB2<\/jats:italic> by direct sequencing, and further audiovestibular examinations, including speech audiometry, distortion product otoacoustic emissions, electrocochleography, auditory brainstem responses, and electronystagmography for some affected members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>A heterozygous A\u2010to\u2010C nucleotide transversion (c.2507A&gt;C), resulting in a lysine\u2010to\u2010threonine substitution at codon 836 (K836T) was identified in exon 8 of <jats:italic>WFS1<\/jats:italic>. K836T was segregated with HL in the 15 participants in the genetic study but was not detected in the 212 normal chromosomes. Only polymorphic changes were detected in <jats:italic>TECTA<\/jats:italic> and <jats:italic>GJB2<\/jats:italic>. Audiovestibular examinations indicated purely cochlear HL and normal vestibular function. The summating potential\/action potential ratios in electrocochleography increased in the bilateral ears of the proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>The family described with autosomal dominant inheritance of K836T of the <jats:italic>WFS1<\/jats:italic> gene demonstrates a progressive hearing loss in the lower frequencies. Laryngoscope, 2010<\/jats:p><\/jats:sec>","DOI":"10.1002\/lary.20691","type":"journal-article","created":{"date-parts":[[2009,10,29]],"date-time":"2009-10-29T21:51:27Z","timestamp":1256853087000},"page":"166-171","source":"Crossref","is-referenced-by-count":19,"title":["Additional heterozygous 2507A&gt;C mutation of <i>WFS1<\/i> in progressive hearing loss at lower frequencies"],"prefix":"10.1002","volume":"120","author":[{"given":"Taro","family":"Fujikawa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiro","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taku","family":"Ito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masatoki","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Kitamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,10,29]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10258"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.22.2501"},{"key":"e_1_2_7_4_2","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s00418-003-0495-6","article-title":"The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells","volume":"119","author":"Cryns K","year":"2003","journal-title":"Histochem Cell Biol"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1177\/000348940411300304"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200402000-00031"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.5.e13"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1080\/00016480510044232"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100380200057"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-8-26"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.129.4.421"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-9-48"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2005.06.011"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600211.x"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200211000-00012"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.129.4.411"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.22.2509"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-005-0665-1"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.10.1967"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0719-1"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32449"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0144-3"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034892"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.04.012"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01869450"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm296"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-2952(03)00531-8"}],"container-title":["The Laryngoscope"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Flary.20691","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Flary.20691","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lary.20691","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T05:13:25Z","timestamp":1700543605000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/lary.20691"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,29]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["10.1002\/lary.20691"],"URL":"https:\/\/doi.org\/10.1002\/lary.20691","archive":["Portico"],"relation":{},"ISSN":["0023-852X","1531-4995"],"issn-type":[{"value":"0023-852X","type":"print"},{"value":"1531-4995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,29]]}}}