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There are three types of WS4 (WS4A\u2013C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (<jats:italic>SOX10<\/jats:italic>), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling. Genomic DNA was extracted, and mutation analysis of the three WS4 related genes was performed using Sanger sequencing. We detected a <jats:italic>de novo<\/jats:italic> heterozygous deletion mutation [c.1333delT (p.Ser445Glnfs*57)] in <jats:italic>SOX10<\/jats:italic> in the patient; however, this mutation was absent in the unaffected parents and 40 ethnicity matched healthy controls. Subsequent phylogenetic analysis and three-dimensional modelling of the <jats:italic>SOX10<\/jats:italic> protein confirmed that the c.1333delT heterozygous mutation was pathogenic, indicating that this mutation might constitute a candidate disease-causing mutation.<\/jats:p>","DOI":"10.1038\/srep41513","type":"journal-article","created":{"date-parts":[[2017,1,27]],"date-time":"2017-01-27T11:57:17Z","timestamp":1485518237000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4"],"prefix":"10.1038","volume":"7","author":[{"given":"Xiong","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaowu","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanjun","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,1,27]]},"reference":[{"key":"BFsrep41513_CR1","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1002\/humu.21211","volume":"31","author":"V Pingault","year":"2010","unstructured":"Pingault, V. et al. 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