{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T22:13:37Z","timestamp":1768083217555,"version":"3.49.0"},"reference-count":15,"publisher":"The Korean Audiological Society","issue":"2","license":[{"start":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:00:00Z","timestamp":1636416000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart Lung and Blood Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100016685","name":"Baylor-Hopkins Center for Mendelian Genomics","doi-asserted-by":"crossref","award":["UM1 HG006542"],"award-info":[{"award-number":["UM1 HG006542"]}],"id":[{"id":"10.13039\/100016685","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["ejao.org"],"crossmark-restriction":true},"short-container-title":["J Audiol Otol"],"published-print":{"date-parts":[[2022,4,10]]},"abstract":"<jats:p>The purpose of this study was to evaluate the clinical and genetic findings of 53-year-old monozygotic twins who had bilateral otosclerosis and right-sided superior semicircular canal near dehiscence (SSCND). Monozygotic twins at the age of 53 presented with conductive hearing loss and normal tympanic membranes. Detailed audiovestibular testing and computed tomography scan revealed that both patients had concurrent otosclerosis and SSCND. Conservative management (hearing aids) was the treatment for these patients. Exome sequencing (ES) for the twins and their affected mother identified a heterozygous missense variant in the EYA4 (c.1744G&gt;A; p.Glu582Lys) gene. This is the first case report to present these separate entities identified in monozygotic twins with a heterozygous missense variant in the EYA4 gene. Our ES data may imply a possible causal relationship or association between variants in the EYA4 gene and concurrent otosclerosis and SSCND.<\/jats:p>","DOI":"10.7874\/jao.2021.00381","type":"journal-article","created":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:17:10Z","timestamp":1636417030000},"page":"97-102","update-policy":"https:\/\/doi.org\/10.7874\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome"],"prefix":"10.7874","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7212-2208","authenticated-orcid":true,"given":"F Ceyda Akin","family":"Ocal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3650-7498","authenticated-orcid":true,"given":"Haluk","family":"Kavus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1079-2393","authenticated-orcid":true,"given":"Bulent","family":"Satar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5788-0270","authenticated-orcid":true,"given":"Davut","family":"Pehli\u0307van","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4621","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-5-47"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/mao.0000000000002077"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1530\/ey.17.14.3"},{"key":"ref4","first-page":"285","volume-title":"Analysis of protein-coding genetic variation in 60,706 humans","author":"Lek","year":"2016"},{"key":"ref5","first-page":"687","volume-title":"The Atherosclerosis Risk in Communities (ARIC) study: design and objectives. 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