{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T11:40:35Z","timestamp":1781005235744,"version":"3.54.1"},"reference-count":19,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Audiol Neurotol"],"published-print":{"date-parts":[[2016]]},"abstract":"The histopathology of the inner ear in a patient with hearing loss caused by the p.L114P <i>COCH<\/i> mutation and its correlation with the clinical phenotype are presented. To date, 23 <i>COCH<\/i> mutations causative of DFNA9 autosomal dominant sensorineural hearing loss and vestibular disorder have been reported, and the histopathology of the human inner ear has been described in 4 of these. The p.L114P <i>COCH<\/i> mutation was first described in a Korean family. We have identified the same mutation in a family of non-Asian ancestry in the USA, and the temporal bone histopathology and clinical findings are presented herein. The histopathology found in the inner ear was similar to that shown in the 4 other <i>COCH<\/i> mutations and included degeneration of the spiral ligament with deposition of an eosinophilic acellular material, which was also found in the distal osseous spiral lamina, at the base of the spiral limbus, and in mesenchymal tissue at the base of the vestibular neuroepithelium. This is the first description of human otopathology of the <i>COCH<\/i> p.L114P mutation. In addition, it is the only case with otopathology characterization in an individual with any <i>COCH<\/i> mutation and residual hearing, thus allowing assessment of primary histopathological events in DFNA9, before progression to more profound hearing loss. A quantitative cytologic analysis of atrophy in this specimen and immunostaining using anti-neurofilament and anti-myelin protein zero antibodies confirmed that the principal histopathologic correlate of hearing loss was degeneration of the dendritic fibers of spiral ganglion cells in the osseous spiral lamina. The implications for cochlear implantation in this disorder are discussed.<\/jats:p>","DOI":"10.1159\/000443822","type":"journal-article","created":{"date-parts":[[2016,3,29]],"date-time":"2016-03-29T22:47:53Z","timestamp":1459291673000},"page":"88-97","source":"Crossref","is-referenced-by-count":22,"title":["Histopathology of the Human Inner Ear in the p.L114P <b><i>COCH<\/i><\/b> Mutation (DFNA9)"],"prefix":"10.1159","volume":"21","author":[{"given":"Barbara J.","family":"Burgess","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer T.","family":"O''Malley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takefumi","family":"Kamakura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kris","family":"Kristiansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nahid G.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia C.","family":"Morton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph B.","family":"Nadol Jr.","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2016,3,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22701"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2005.09.023"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0068692"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2010.11.002"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1993.01880130108016"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200008000-00030"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1993.01880130108016"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0001-4"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s10162-010-0245-0"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1159\/000059105"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159\/000158536"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2013.01.015"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl022"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.479"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/3118"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007\/s10162-014-0481-9"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.22.2493"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1177\/0003489415573074"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1097\/01.mao.0000187240.33712.01"}],"container-title":["Audiology and Neurotology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/443822","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/443822","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:41:36Z","timestamp":1745430096000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000443822"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":19,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2016,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000443822","archive":["Portico"],"relation":{},"ISSN":["1420-3030","1421-9700"],"issn-type":[{"value":"1420-3030","type":"print"},{"value":"1421-9700","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}