{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T03:45:37Z","timestamp":1766720737210,"version":"build-2065373602"},"reference-count":20,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.gene.2021.146000","type":"journal-article","created":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T10:42:07Z","timestamp":1633603327000},"page":"146000","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Novel heterozygous mutations in the otogelin-like (OTOGL) gene in a child with bilateral mild nonsyndromic sensorineural hearing loss"],"prefix":"10.1016","volume":"808","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9355-1260","authenticated-orcid":false,"given":"Chen","family":"Pan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shixin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7577-3708","authenticated-orcid":false,"given":"Yunmei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3558-0263","authenticated-orcid":false,"given":"Yafeng","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2021.146000_b0005","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/gim.2014.2","article-title":"American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss","volume":"16","author":"Alford","year":"2014","journal-title":"Genet. Med."},{"issue":"51","key":"10.1016\/j.gene.2021.146000_b0010","doi-asserted-by":"crossref","first-page":"25948","DOI":"10.1073\/pnas.1902781116","article-title":"Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane","volume":"116","author":"Avan","year":"2019","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.gene.2021.146000_b0015","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1089\/gtmb.2016.0406","article-title":"The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family","volume":"21","author":"Barake","year":"2017","journal-title":"Genet. Test. Mol. Biomarkers"},{"issue":"2","key":"10.1016\/j.gene.2021.146000_b0020","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/j.gene.2013.06.044","article-title":"Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment","volume":"527","author":"Bonnet","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.gene.2021.146000_b0025","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1097\/00003446-199004000-00003","article-title":"Outer hair cell electromotility and otoacoustic emissions","volume":"11","author":"Brownell","year":"1990","journal-title":"Ear Hear."},{"key":"10.1016\/j.gene.2021.146000_b0030","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1159\/000074183","article-title":"Deafness genes and their diagnostic applications","volume":"9","author":"Cryns","year":"2004","journal-title":"Audiol. Neurootol."},{"key":"10.1016\/j.gene.2021.146000_b0035","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.2741\/4046","article-title":"Autosomal recessive nonsyndromic deafness genes: a review","volume":"17","author":"Duman","year":"2012","journal-title":"Front. Biosci. (Landmark Ed)"},{"key":"10.1016\/j.gene.2021.146000_b0040","first-page":"115","article-title":"Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene","volume":"101","author":"Feng","year":"2021","journal-title":"Zhonghua Yi Xue Za Zhi."},{"issue":"6","key":"10.1016\/j.gene.2021.146000_b0045","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/j.ijporl.2015.03.008","article-title":"Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss","volume":"79","author":"Gu","year":"2015","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"10.1016\/j.gene.2021.146000_b0050","doi-asserted-by":"crossref","first-page":"546","DOI":"10.2174\/156652409788488775","article-title":"Function and expression pattern of nonsyndromic deafness genes","volume":"9","author":"Hilgert","year":"2009","journal-title":"Curr. Mol. Med."},{"key":"10.1016\/j.gene.2021.146000_b0055","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1159\/000095275","article-title":"Diagnostics of the cochlear amplifier by means of distortion product otoacoustic emissions","volume":"68","author":"Janssen","year":"2006","journal-title":"ORL J. Otorhinolaryngol. Relat. Spec."},{"issue":"1","key":"10.1016\/j.gene.2021.146000_b0060","doi-asserted-by":"crossref","DOI":"10.1038\/nrdp.2016.94","article-title":"Congenital hearing loss","volume":"3","author":"Korver","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"key":"10.1016\/j.gene.2021.146000_b0065","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1007\/s00405-013-2376-5","article-title":"Caloric test and video-head-impulse: a study of vertigo\/dizziness patients in a community hospital","volume":"271","author":"Mahringer","year":"2014","journal-title":"Eur. Arch. Otorhinolaryngol."},{"key":"10.1016\/j.gene.2021.146000_b0070","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1097\/00003446-199004000-00005","article-title":"Otoacoustic emissions in human ears: normative findings","volume":"11","author":"Martin","year":"1990","journal-title":"Ear Hear."},{"key":"10.1016\/j.gene.2021.146000_b0075","doi-asserted-by":"crossref","first-page":"725","DOI":"10.2471\/BLT.19.230367","article-title":"Hearing loss grades and the International classification of functioning, disability and health","volume":"97","author":"Olusanya","year":"2019","journal-title":"Bull. World Health Organ."},{"key":"10.1016\/j.gene.2021.146000_b0080","doi-asserted-by":"crossref","unstructured":"Oonk, A. M., Leijendeckers, J. M., Huygen, P. L., et al., 2014. Similar phenotypes caused by mutations in OTOG and OTOGL. Ear Hear. 35, e84-91.","DOI":"10.1097\/AUD.0000000000000008"},{"key":"10.1016\/j.gene.2021.146000_b0085","doi-asserted-by":"crossref","first-page":"2621","DOI":"10.1007\/s00405-014-3205-1","article-title":"Economic management of vertigo\/dizziness disease in a county hospital: video-head-impulse test vs. caloric irrigation","volume":"272","author":"Rambold","year":"2015","journal-title":"Eur. Arch. Otorhinolaryngol."},{"issue":"9","key":"10.1016\/j.gene.2021.146000_b0090","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1136\/jmg.2009.075697","article-title":"Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84","volume":"47","author":"Shahin","year":"2010","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2021.146000_b0095","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1038\/72793","article-title":"Targeted disruption of otog results in deafness and severe imbalance","volume":"24","author":"Simmler","year":"2000","journal-title":"Nat. Genet."},{"issue":"5","key":"10.1016\/j.gene.2021.146000_b0100","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1016\/j.ajhg.2012.09.011","article-title":"Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss","volume":"91","author":"Yariz","year":"2012","journal-title":"Am. J. Hum. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111921005953?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111921005953?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T16:49:10Z","timestamp":1759855750000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111921005953"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":20,"alternative-id":["S0378111921005953"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2021.146000","relation":{},"ISSN":["0378-1119"],"issn-type":[{"type":"print","value":"0378-1119"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel heterozygous mutations in the otogelin-like (OTOGL) gene in a child with bilateral mild nonsyndromic sensorineural hearing loss","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2021.146000","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"146000"}}