{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:51:50Z","timestamp":1787017910920,"version":"build-2736575974"},"reference-count":20,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2015]]},"abstract":"<b><i>Background:<\/i><\/b> Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder consisting of hypogonadotropic hypogonadism and anosmia. KS is occasionally associated with deafness. Recently, mutations in <i>SOX10<\/i>, a well-known causative gene of Waardenburg syndrome (WS) characterized by deafness, skin\/hair\/iris hypopigmentation, Hirschsprung disease, and neurological defects, have been identified in a few patients with KS and deafness. However, the current understanding of the clinical consequences of <i>SOX10<\/i> mutations remains fragmentary. <b><i>Case Report:<\/i><\/b> A Japanese male patient presented with sensory deafness, blue irises, and anosmia, but no hair\/skin hypopigmentation, Hirschsprung disease, or neurological abnormalities. He showed no pubertal sex development at 15.1 years of age. Blood examinations revealed low levels of FSH and testosterone. <b><i>Results:<\/i><\/b> Molecular analysis detected a de novo p.Leu145Pro mutation in <i>SOX10<\/i>, which has previously been reported in a patient with WS and Hirschsprung disease. The mutation was predicted to be probably damaging. The mutant protein barely exerted in vitro transactivating activity. <b><i>Conclusions:<\/i><\/b> These results highlight the significance of <i>SOX10<\/i> haploinsufficiency as a genetic cause of KS with deafness. Importantly, our data imply that the same <i>SOX10<\/i> mutations can underlie both typical WS and KS with deafness without skin\/hair hypopigmentation, Hirschsprung disease, or neurological defects.<\/jats:p>","DOI":"10.1159\/000436965","type":"journal-article","created":{"date-parts":[[2015,7,28]],"date-time":"2015-07-28T17:01:30Z","timestamp":1438102890000},"page":"212-216","source":"Crossref","is-referenced-by-count":27,"title":["Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation"],"prefix":"10.1159","volume":"84","author":[{"given":"Erina","family":"Suzuki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Izumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuta","family":"Chiba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiko","family":"Horikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Matsubara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamoru","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Naiki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2015,7,29]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s11102-007-0061-7"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2001.01277.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-0164"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0000000000000228"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.008"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-014-0252-7"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000355380"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1159\/000312693"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-014-0434-4"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.024"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2014.60"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12506"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/PL00008350"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.2.Supple1_1"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-1598"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1535"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21583"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36612"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/ng0594-5"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/436965","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/436965","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T13:35:56Z","timestamp":1745415356000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000436965"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":20,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2015,9,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000436965","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5128384","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}