{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T17:12:55Z","timestamp":1758820375375,"version":"3.41.2"},"reference-count":11,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T00:00:00Z","timestamp":1661126400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>A 5-month-old patient presented with grayish-blue iris bilaterally, skin and mucosal pigmentation loss, Hirschsprung's disease, full-blown growth retardation, and sensorineural deafness. The patient's whole exon gene sequencing revealed a spontaneous heterozygous code-shifting mutation in the SOX10 gene: c.803del:p.K268Sfs<jats:sup>*<\/jats:sup>18. The parents of the child were wild-type, and the site of the mutation is novel.<\/jats:p>","DOI":"10.3389\/fped.2022.898693","type":"journal-article","created":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T07:18:37Z","timestamp":1661152717000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C"],"prefix":"10.3389","volume":"10","author":[{"given":"Suli","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuangzhu","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenxian","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanqi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiandui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cui","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiming","family":"Pang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1136\/jmg.34.8.656","article-title":"Waardenburg syndrome","volume":"34","author":"Read","year":"1997","journal-title":"J Med Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1038\/355635a0","article-title":"Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene","volume":"355","author":"Tassabehji","year":"1992","journal-title":"Nature."},{"key":"B3","doi-asserted-by":"publisher","first-page":"643546","DOI":"10.3389\/fgene.2021.643546","article-title":"High genetic heterogeneity in Chinese patients with Waardenburg syndrome revealed by next-generation sequencing","volume":"12","author":"Zhang","year":"2021","journal-title":"Front Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1111\/cge.12631","article-title":"Hearing loss in Waardenburg syndrome: a systematic review","volume":"89","author":"Song","year":"2016","journal-title":"Clin Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1038\/355637a0","article-title":"An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome","volume":"355","author":"Baldwin","year":"1992","journal-title":"Nature."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1086\/522090","article-title":"Deletions at the SOX10 gene locus gene Waardenburg syndrome types 2 and 4","volume":"81","author":"Bondurand","year":"2007","journal-title":"Am J Hum Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1257","DOI":"10.3174\/ajnr.A3367","article-title":"Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome SOX10 mutations","volume":"34","author":"Elmaleh-Berges","year":"2013","journal-title":"Am J Neuroradiol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1007\/s00439-002-0765-8","article-title":"SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism","volume":"111","author":"Pingault","year":"2002","journal-title":"Hum Genet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1101\/gr.9.3.215","article-title":"The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome","volume":"9","author":"Southard-Smith","year":"1999","journal-title":"Genome Res."},{"key":"B10","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1038\/ng0198-60","article-title":"Sox10 mutation disrupts neural crest development in Dom Hirsch sprung mouse model","volume":"18","author":"Southard-Smith","year":"1998","journal-title":"Nat Genet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1038\/ng0298-171","article-title":"SOX10 mutations in patients with Waardenburg-Hirschsprung disease","volume":"18","author":"Pingault","year":"1998","journal-title":"Nat Genet."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.898693\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T07:18:40Z","timestamp":1661152720000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.898693\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,22]]},"references-count":11,"alternative-id":["10.3389\/fped.2022.898693"],"URL":"https:\/\/doi.org\/10.3389\/fped.2022.898693","relation":{},"ISSN":["2296-2360"],"issn-type":[{"type":"electronic","value":"2296-2360"}],"subject":[],"published":{"date-parts":[[2022,8,22]]},"article-number":"898693"}}