{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:11:51Z","timestamp":1791187911091,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,11,6]],"date-time":"2014-11-06T00:00:00Z","timestamp":1415232000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-JCJC-2010"],"award-info":[{"award-number":["ANR-JCJC-2010"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"National Institute of Health and Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002738","name":"Assistance Publique H\u00f4pitaux de Paris","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002738","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Association s'entendre"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:p>Ninety genes have been identified to date that are involved in non\u2010syndromic hearing loss, and more than 300 different forms of syndromic hearing impairment have been described. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SOX10<\/jats:styled-content><\/jats:italic>, one of the genes contributing to syndromic hearing loss, induce a large range of phenotypes, including several subtypes of Waardenburg syndrome and Kallmann syndrome with deafness. In addition, rare mutations have been identified in patients with isolated signs of these diseases. We used the recent characterization of temporal bone imaging aspects in patients with <jats:italic><jats:styled-content style=\"fixed-case\">SOX10<\/jats:styled-content><\/jats:italic> mutations to identify possible patients with isolated hearing loss due to <jats:italic><jats:styled-content style=\"fixed-case\">SOX10<\/jats:styled-content><\/jats:italic> mutation. We selected 21 patients with isolated deafness and temporal bone morphological defects for mutational screening. We identified two <jats:italic><jats:styled-content style=\"fixed-case\">SOX10<\/jats:styled-content><\/jats:italic> mutations and found that both resulted in a non\u2010functional protein <jats:italic>in vitro<\/jats:italic>. Re\u2010evaluation of the two affected patients showed that both had previously undiagnosed olfactory defects. Diagnosis of anosmia or hyposmia in young children is challenging, and particularly in the absence of magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>), <jats:italic><jats:styled-content style=\"fixed-case\">SOX10<\/jats:styled-content><\/jats:italic> mutations can mimic non\u2010syndromic hearing impairment. <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> should complete temporal bones computed tomographic scan in the management of congenital deafness as it can detect brain anomalies, cochlear nerve defects, and olfactory bulb malformation in addition to inner ear malformations.<\/jats:p>","DOI":"10.1111\/cge.12506","type":"journal-article","created":{"date-parts":[[2014,9,25]],"date-time":"2014-09-25T19:36:52Z","timestamp":1411673812000},"page":"352-359","source":"Crossref","is-referenced-by-count":28,"title":["<i>SOX10<\/i> mutations mimic isolated hearing loss"],"prefix":"10.1111","volume":"88","author":[{"given":"V.","family":"Pingault","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Henri Mondor, AP\u2010HP  Cr\u00e9teil France"},{"name":"Equipe 11 INSERM, U955  Cr\u00e9teil France"},{"name":"UMR_S955 Universit\u00e9 Paris\u2010Est, UPEC  Cr\u00e9teil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Faubert","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Henri Mondor, AP\u2010HP  Cr\u00e9teil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Baral","sequence":"additional","affiliation":[{"name":"Equipe 11 INSERM, U955  Cr\u00e9teil France"},{"name":"UMR_S955 Universit\u00e9 Paris\u2010Est, UPEC  Cr\u00e9teil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Gherbi","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre de r\u00e9f\u00e9rence Surdit\u00e9s G\u00e9n\u00e9tiques  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Loundon","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre de r\u00e9f\u00e9rence Surdit\u00e9s G\u00e9n\u00e9tiques  Paris France"},{"name":"Service d'ORL H\u00f4pital Necker, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Couloigner","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre de r\u00e9f\u00e9rence Surdit\u00e9s G\u00e9n\u00e9tiques  Paris France"},{"name":"Service d'ORL H\u00f4pital Necker, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Denoyelle","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre de r\u00e9f\u00e9rence Surdit\u00e9s G\u00e9n\u00e9tiques  Paris France"},{"name":"Service d'ORL H\u00f4pital Necker, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"No\u00ebl\u2010P\u00e9troff","sequence":"additional","affiliation":[{"name":"Service d'ORL H\u00f4pital Robert Debr\u00e9, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Ducou Le Pointe","sequence":"additional","affiliation":[{"name":"Service de radiologie H\u00f4pital Armand Trousseau, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Elmaleh\u2010Berg\u00e8s","sequence":"additional","affiliation":[{"name":"Service de radiologie H\u00f4pital Robert Debr\u00e9, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Bondurand","sequence":"additional","affiliation":[{"name":"Equipe 11 INSERM, U955  Cr\u00e9teil France"},{"name":"UMR_S955 Universit\u00e9 Paris\u2010Est, UPEC  Cr\u00e9teil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Marlin","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre de r\u00e9f\u00e9rence Surdit\u00e9s G\u00e9n\u00e9tiques  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,6]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e3283588f5e"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1322"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.024"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-171"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22499"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-010-0592-7"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A3367"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2009.03.055"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000174"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0906596107"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.057836"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm727"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.29"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0041927"},{"key":"e_1_2_3_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21583"},{"key":"e_1_2_3_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.1907"},{"key":"e_1_2_3_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36302"},{"key":"e_1_2_3_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36612"},{"key":"e_1_2_3_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200212000-00019"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12506","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12506","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T06:23:34Z","timestamp":1696400614000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12506"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,6]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1111\/cge.12506"],"URL":"https:\/\/doi.org\/10.1111\/cge.12506","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,6]]}}}