{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T19:50:43Z","timestamp":1789501843832,"version":"build-2803163510"},"reference-count":21,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2002,3,1]],"date-time":"2002-03-01T00:00:00Z","timestamp":1014940800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ann Otol Rhinol Laryngol"],"published-print":{"date-parts":[[2002,3]]},"abstract":"<jats:p>We analyzed hearing thresholds, speech recognition scores, and vestibular responses in 32 affected persons in a large family with DFNA2\/ KCNQ4-related hearing impairment caused by a W276S missense mutation. Linear regression analysis of individual longitudinal data revealed significant threshold progression (1 dB\/y) and offset (at age zero). The mean offset thresholds were 5, 21, 40, 39, 31, and 51 dB hearing level (HL) at 0.25, 0.5, 1, 2, 4, and 8 kHz, respectively. Cross-sectional analysis of last-visit thresholds against age produced less-steep slopes and higher offset thresholds. Nonlinear regression analysis of last-visit phoneme recognition scores against age in 25 cases showed that speech recognition did not deteriorate before the third decade. a hyperactive vestibulo-ocular reflex was found in 3 of 11 cases; 2 persons were especially susceptible to motion sickness. Persons with this KCNQ4 mutation showed congenital, progressive high-frequency impairment without substantial loss of speech recognition during the first decades of life.<\/jats:p>","DOI":"10.1177\/000348940211100312","type":"journal-article","created":{"date-parts":[[2014,10,3]],"date-time":"2014-10-03T14:40:52Z","timestamp":1412347252000},"page":"267-274","source":"Crossref","is-referenced-by-count":34,"title":["Longitudinal and Cross-Sectional Phenotype Analysis in a New, Large Dutch DFNA2\/\n                    <i>KCNQ4<\/i>\n                    Family"],"prefix":"10.1177","volume":"111","author":[{"given":"Els M. R.","family":"De Leenheer","sequence":"first","affiliation":[{"name":"Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick L. M.","family":"Huygen","sequence":"additional","affiliation":[{"name":"Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Coucke","sequence":"additional","affiliation":[{"name":"Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J. C.","family":"Admiraal","sequence":"additional","affiliation":[{"name":"Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Van Camp","sequence":"additional","affiliation":[{"name":"Antwerp, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cor W. R. J.","family":"Cremers","sequence":"additional","affiliation":[{"name":"Nijmegen, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2002,3,1]]},"reference":[{"key":"bibr1-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199408183310702"},{"key":"bibr2-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4624"},{"key":"bibr3-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1038\/3845"},{"key":"bibr4-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80556-5"},{"key":"bibr5-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P"},{"key":"bibr6-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000731)93:3<184::AID-AJMG4>3.0.CO;2-5"},{"key":"bibr7-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1321"},{"key":"bibr8-000348940211100312","volume-title":"Autosomal dominant inherited nonsyndromic sensorineural hearing impairment [Thesis]","author":"Kunst HPM","year":"1999"},{"key":"bibr9-000348940211100312","doi-asserted-by":"publisher","DOI":"10.3109\/03005369909090111"},{"key":"bibr10-000348940211100312","unstructured":"Van Camp G, Smith RJH. 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Accessed June 16, 2000."},{"key":"bibr11-000348940211100312","volume":"60","author":"De Leenheer EMR","year":"2002","journal-title":"Adv Otorhinolaryngol"},{"key":"bibr12-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1159\/000275460"},{"key":"bibr13-000348940211100312","first-page":"141","volume":"30","author":"Huygen PLM","year":"1993","journal-title":"Adv Otorhinolaryngol"},{"key":"bibr14-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(92)90259-N"},{"key":"bibr15-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2273.1986.tb00123.x"},{"key":"bibr16-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-199801000-00014"},{"key":"bibr17-000348940211100312","first-page":"98","volume-title":"Developments in genetic hearing impairment","author":"Kunst H","year":"1998"},{"key":"bibr18-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1007\/PL00007511"},{"key":"bibr19-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1997.01900060015002"},{"key":"bibr20-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.8.4333"},{"key":"bibr21-000348940211100312","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(97)01192-2"}],"container-title":["Annals of Otology, Rhinology &amp; Laryngology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/000348940211100312","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/000348940211100312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:15:58Z","timestamp":1777374958000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/000348940211100312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,3]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,3]]}},"alternative-id":["10.1177\/000348940211100312"],"URL":"https:\/\/doi.org\/10.1177\/000348940211100312","relation":{},"ISSN":["0003-4894","1943-572X"],"issn-type":[{"value":"0003-4894","type":"print"},{"value":"1943-572X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,3]]}}}