{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:57:18Z","timestamp":1745470638618,"version":"3.40.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2006,12,13]],"date-time":"2006-12-13T00:00:00Z","timestamp":1165968000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2006,12,13]],"date-time":"2006-12-13T00:00:00Z","timestamp":1165968000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ORL"],"published-print":{"date-parts":[[2007]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; A variety of processes and etiologies are thought to be involved in the pathophysiology of auditory neuropathy (AN). However, little is known about the clinical and molecular characteristics of hereditary AN. &lt;i&gt;Objective:&lt;\/i&gt; To explore the clinical and genetic findings of a Chinese family with AN. &lt;i&gt;Methods:&lt;\/i&gt; Seven patientsin three consecutive generations of the pedigree were selected. Detailed history collection, physical examination, and audiological evaluations including pure-tone audiometry, acoustic immittance, auditory brainstem responses, cochlear microphonics, and evoked otoacoustic emissions, and mitochondrial DNA analysis were performed. &lt;i&gt;Results:&lt;\/i&gt; All subjects involved are offspring of a female ancestor in the pedigree. In 6 of them, the hearing impairment started before the age of 9. Audiograms showed bilateral, symmetric, and profound deafness. Other audiological examinations revealed absent acoustic reflexes and auditory brainstem responses, and preserved evoked otoacoustic emissions and cochlear microphonics. One subject was characterized by normal audiological findings except high-frequency hearing loss with later onset. Hearing deterioration was found in 2 subjects who were followed for 26 months. Physical examination and mitochondrial DNA analysis yielded normal results. &lt;i&gt;Conclusions:&lt;\/i&gt; Clinical features in the pedigree are consistent with type II AN. Pedigree analysis and molecular findings indicate an autosomal dominant inheritance.<\/jats:p>","DOI":"10.1159\/000097981","type":"journal-article","created":{"date-parts":[[2006,12,15]],"date-time":"2006-12-15T15:03:55Z","timestamp":1166195035000},"page":"131-136","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and Genetic Features in a Chinese Pedigree with Autosomal Dominant Auditory Neuropathy"],"prefix":"10.1159","volume":"69","author":[{"given":"Guangqian","family":"Xing","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiqin","family":"Tian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhibin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaolu","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qinjun","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingkuan","family":"Bu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2006,12,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/119.3.741"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200309000-00041"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.017673"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s004240000148"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.45"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200011)48:5<730::AID-ANA6>3.0.CO;2-0"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30424"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097\/00003446-199802000-00002"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.4.967"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1097\/00003446-199906000-00006"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1097\/00003446-200104000-00002"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1293.025"}],"container-title":["ORL"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/97981","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/97981","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:26:41Z","timestamp":1745461601000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000097981"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,13]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2007,2,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000097981","archive":["Portico"],"relation":{},"ISSN":["0301-1569","1423-0275"],"issn-type":[{"type":"print","value":"0301-1569"},{"type":"electronic","value":"1423-0275"}],"subject":[],"published":{"date-parts":[[2006,12,13]]}}}