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Array\u2010comparative genomic hybridization analysis (Array\u2010CGH) showed a 2.05\u2009Mb de novo interstitial deletion at 10p11.23p11.22. The deleted region overlaps 1 OMIM Morbid Map gene, <jats:italic>ZEB1<\/jats:italic> (the zinc finger E\u2010box binding homeobox transcription factor 1), previously associated with posterior polymorphous corneal dystrophy type 3 (PPCD3). To our best knowledge this is the first reported case with a deletion of the <jats:italic>ZEB1<\/jats:italic> gene in an individual with ACC and PPD, showing that the haploinsufficiency of the <jats:italic>ZEB1<\/jats:italic> is likely the cause of our patient's phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38321","type":"journal-article","created":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T12:32:46Z","timestamp":1500985966000},"page":"2467-2471","source":"Crossref","is-referenced-by-count":10,"title":["Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6014-6288","authenticated-orcid":false,"given":"Ayeshah","family":"Chaudhry","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Genetics Trillium Health Partners Mississauga Ontario Canada"},{"name":"Department of Laboratory Medicine and Pathobiology University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7044-5916","authenticated-orcid":false,"given":"Brian H.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Paediatric and Adolescent Medicine University of Hong Kong Hong Kong Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitri J.","family":"Stavropoulos","sequence":"additional","affiliation":[{"name":"Department of Paediatric Laboratory Medicine, Division of Genome Diagnostics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela P.","family":"Araya","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asim","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elise","family":"Heon","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"},{"name":"Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,7,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31978"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10578-007-0065-6"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2005.08.008"},{"issue":"1","key":"e_1_2_6_5_1","first-page":"12","article-title":"Confirmation of the OVOL2 promoter mutation c.\u2010307T>C in posterior polymorphous corneal dystrophy 1","volume":"3","author":"Chung D. 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