{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T00:20:44Z","timestamp":1777422044841,"version":"3.51.4"},"reference-count":26,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2009,5,1]],"date-time":"2009-05-01T00:00:00Z","timestamp":1241136000000},"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":[[2009,5]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>We analyzed the phenotype in a 5-generation DFNA20\/26 family with a novel missense mutation in the ACTG1 gene (c.151G&gt;A) and compared the findings to previous reports on DFNA20\/26 families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Audiometric data were collected from the family members of a Dutch kindred with the novel ACTG1 mutation. Cross-sectional and\/or longitudinal analyses were performed on pure tone and speech audiometry data of the mutation carriers. Age-related typical audiograms were constructed. Vestibular examination was performed in all mutation carriers.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Overall, high-frequency hearing impairment, most prominent at ages over 30 years, was observed with a progression rate of 1.1 to 2.1 dB\/y, increasing with frequency. It ultimately resulted in residual hearing. Speech recognition scores remained good at given pure tone average (1, 2, and 4 kHz) levels, but were slightly poorer than those at similar levels in a group of patients with presbycusis. Vestibular examination did not reveal any consistent, statistically significant abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>The audiometric phenotype of the Dutch DFNA20\/26 family with a novel mutation in ACTG1 was largely consistent with previous reports on DFNA20\/26. Considerable variations were found in audiogram configurations within the family. This is the first known DFNA20\/26 family that has experienced tinnitus.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/000348940911800511","type":"journal-article","created":{"date-parts":[[2014,10,3]],"date-time":"2014-10-03T14:44:54Z","timestamp":1412347494000},"page":"382-390","source":"Crossref","is-referenced-by-count":20,"title":["Audiometric and Vestibular Features in a Second Dutch DFNA20\/26 Family with a Novel Mutation in\n                    <i>ACTG1<\/i>"],"prefix":"10.1177","volume":"118","author":[{"given":"Anne-Martine R.","family":"de Heer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick L. M.","family":"Huygen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rob W. J.","family":"Collin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaap","family":"Oostrik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannie","family":"Kremer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. R. J.","family":"Cremers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2009,5,1]]},"reference":[{"key":"bibr1-000348940911800511","unstructured":"Van Camp G, Smith RJH. Hereditary Hearing Loss Homepage. 2007; available at: URL: http:\/\/webh01.ua.ac.be\/hhh\/."},{"key":"bibr2-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1201\/b13986-16"},{"key":"bibr3-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.6058"},{"key":"bibr4-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1097\/00003446-200108000-00003"},{"key":"bibr5-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.630106.x"},{"key":"bibr6-000348940911800511","first-page":"300","volume":"67","author":"Yang T","year":"2000","journal-title":"Am J Hum Genet"},{"key":"bibr7-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1086\/379286"},{"key":"bibr8-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.12.879"},{"key":"bibr9-000348940911800511","doi-asserted-by":"publisher","DOI":"10.3109\/00016486809120977"},{"key":"bibr10-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201670"},{"key":"bibr11-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.130.3.281"},{"key":"bibr12-000348940911800511","unstructured":"Morin M, Mencia A, Hoybjor S Modamio, Functional analysis of two novel ACGT1 mutations responsible for DFNA20\/A26 hearing impairment. Book of Abstracts, 6th Molecular Biology of Hearing and Deafness Conference, 2007."},{"key":"bibr13-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1016\/S1673-8527(08)60075-2"},{"key":"bibr14-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4612-0757-3_2"},{"key":"bibr15-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M601514200"},{"key":"bibr16-000348940911800511","volume-title":"Acoustics: Standard reference zero for the calibration of pure tone air conduction audiometers","author":"International Organization for Standardization","year":"1985"},{"key":"bibr17-000348940911800511","volume-title":"Acoustics: Audiometric test methods I: Basic pure tone air and bone conduction threshold audiometry","author":"International Organization for Standardization","year":"1989"},{"key":"bibr18-000348940911800511","volume-title":"Acoustics: Threshold of hearing by air conduction as a function of age and sex for otologically normal persons","author":"International Organization for Standardization","year":"1984"},{"key":"bibr19-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1080\/16513860301713"},{"key":"bibr20-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1080\/16513860310003049"},{"key":"bibr21-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.127.9.1045"},{"key":"bibr22-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1997.01900060015002"},{"key":"bibr23-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1992.00530330078020"},{"key":"bibr24-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200604000-00006"},{"key":"bibr25-000348940911800511","doi-asserted-by":"publisher","DOI":"10.1177\/000348940211100312"},{"key":"bibr26-000348940911800511","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1242\/jcs.110.6.765","volume":"110","author":"H\u00f6fer D","year":"1997","journal-title":"J Cell Sci"}],"container-title":["Annals of Otology, Rhinology &amp; Laryngology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/000348940911800511","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/000348940911800511","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:18:53Z","timestamp":1777375133000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/000348940911800511"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,5]]}},"alternative-id":["10.1177\/000348940911800511"],"URL":"https:\/\/doi.org\/10.1177\/000348940911800511","relation":{},"ISSN":["0003-4894","1943-572X"],"issn-type":[{"value":"0003-4894","type":"print"},{"value":"1943-572X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5]]}}}