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Variants in CHD7 have been shown to cause CHARGE syndrome. Here, we report the identification of a novel de novo p.Asp2119_Pro2120ins6 duplication variant in a conserved region of CHD7 in a severely affected boy presenting with 3 and 5 of the CHARGE cardinal major and minor signs, respectively, combined with congenital umbilical hernia, congenital hernia at the linea alba, mildly hypoplastic inferior vermis, slight dilatation of the lateral ventricles, prominent metopic ridge, and hypoglycemic episodes. <\/jats:p>","DOI":"10.1177\/1178631019839010","type":"journal-article","created":{"date-parts":[[2019,4,2]],"date-time":"2019-04-02T08:34:48Z","timestamp":1554194088000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>De Novo<\/i> Duplication in the <i>CHD7<\/i> Gene Associated With Severe CHARGE Syndrome"],"prefix":"10.1177","volume":"12","author":[{"given":"Laura","family":"Pranck\u0117nien\u0117","sequence":"first","affiliation":[{"name":"Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Egl\u0117","family":"Preik\u0161aitien\u0117","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Gueneau","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Reymond","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaidutis","family":"Ku\u010dinskas","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,4,2]]},"reference":[{"doi-asserted-by":"publisher","key":"bibr1-1178631019839010","DOI":"10.1002\/ajmg.a.30560"},{"doi-asserted-by":"publisher","key":"bibr2-1178631019839010","DOI":"10.1016\/j.ijporl.2008.10.005"},{"doi-asserted-by":"publisher","key":"bibr3-1178631019839010","DOI":"10.1097\/MCD.0b013e328306a704"},{"doi-asserted-by":"publisher","key":"bibr4-1178631019839010","DOI":"10.1101\/gr.176925.114"},{"doi-asserted-by":"publisher","key":"bibr5-1178631019839010","DOI":"10.1002\/humu.22529"},{"doi-asserted-by":"publisher","key":"bibr6-1178631019839010","DOI":"10.1016\/j.ajhg.2016.06.025"},{"doi-asserted-by":"publisher","key":"bibr7-1178631019839010","DOI":"10.1016\/j.ejmg.2016.12.004"},{"doi-asserted-by":"publisher","key":"bibr8-1178631019839010","DOI":"10.1016\/j.ajhg.2017.12.002"},{"doi-asserted-by":"publisher","key":"bibr9-1178631019839010","DOI":"10.1371\/journal.pgen.1003709"},{"doi-asserted-by":"publisher","key":"bibr10-1178631019839010","DOI":"10.1038\/nmeth0810-575"},{"doi-asserted-by":"publisher","key":"bibr11-1178631019839010","DOI":"10.1101\/gr.176601"},{"doi-asserted-by":"publisher","key":"bibr12-1178631019839010","DOI":"10.1038\/nmeth0410-248"},{"doi-asserted-by":"publisher","key":"bibr13-1178631019839010","DOI":"10.1038\/nature19057"},{"doi-asserted-by":"crossref","unstructured":"Delafontaine J, Masselot A, Liechti R, Kuznetsov D, Xenarios I, Pradervand S. 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