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To expand the mutation spectrum of the causative genes in JOAG, with a view to identify novel disease-causing mutations, we investigated <jats:italic>MYOC<\/jats:italic>, <jats:italic>OPTN<\/jats:italic>, <jats:italic>NTF4<\/jats:italic>, <jats:italic>WDR36<\/jats:italic> and <jats:italic>CYP1B1<\/jats:italic> in a cohort of 67 unrelated Chinese JOAG patients. Whole exome sequencing was used to identify possible pathogenic mutations, which were further excluded in normal controls. After sequencing and the use of a database pipeline, as well as predictive assessment filtering, we identified a total of six mutations in three genes, <jats:italic>MYOC<\/jats:italic>, <jats:italic>OPTN<\/jats:italic> and <jats:italic>CYP1B1<\/jats:italic>. Among them, 2 heterozygous mutations in <jats:italic>MYOC<\/jats:italic> (c. 1109C\u2009&gt;\u2009T, p. (P370L); c. 1150G\u2009&gt;\u2009C, p. (D384H)), 2 heterozygous mutations in <jats:italic>OPTN<\/jats:italic> (c. 985A\u2009&gt;\u2009G, p.(R329G); c. 1481T\u2009&gt;\u2009G, p. (L494W)) and 2 homozygous mutations in <jats:italic>CYP1B1<\/jats:italic> (c. 1412T\u2009&gt;\u2009G, p.(I471S); c. 1169G\u2009&gt;\u2009A, p.(R390H)) were identified as potentially causative mutations. No mutation was detected in <jats:italic>NTF4<\/jats:italic> or <jats:italic>WDR36<\/jats:italic>. Our results enrich the mutation spectra and frequencies of <jats:italic>MYOC<\/jats:italic>, <jats:italic>OPTN<\/jats:italic> and <jats:italic>CYP1B1<\/jats:italic> in JOAG among the Chinese population. Further studies are needed to address the pathogenicity of each of the mutations detected in this study.<\/jats:p>","DOI":"10.1038\/s41598-018-22337-2","type":"journal-article","created":{"date-parts":[[2018,3,8]],"date-time":"2018-03-08T11:28:00Z","timestamp":1520508480000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing"],"prefix":"10.1038","volume":"8","author":[{"given":"Chukai","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijing","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenggen","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingjie","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuqian","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi-Pui","family":"Pang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingzhi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,3,14]]},"reference":[{"key":"22337_CR1","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1016\/S0140-6736(10)61423-7","volume":"377","author":"HA Quigley","year":"2011","unstructured":"Quigley, H. 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