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CSDE1 displays a bidirectional role: promoting and repressing the translation of RNAs but also increasing and decreasing the abundance of RNAs. Preclinical studies highlighted an involvement of <jats:italic>CSDE1<\/jats:italic> in different forms of cancer. Moreover, <jats:italic>CSDE1<\/jats:italic> is highly expressed in human embryonic stem cells and plays a role in neuronal migration and differentiation. A genome\u2010wide association study suggested <jats:italic>CSDE1<\/jats:italic> as a potential autism\u2010spectrum disorder risk gene. A multicenter next generation sequencing approach unraveled likely causative heterozygous variants in <jats:italic>CSDE1<\/jats:italic> in 18 patients, identifying a new autism spectrum disorder\u2010related syndrome consisting of autism, intellectual disability, and neurodevelopmental delay. Since then, no further patients with <jats:italic>CSDE1<\/jats:italic> variants have been reported in the literature. Here, we report a 9.5\u2010year\u2010old girl from a consanguineous family of Turkish origin suffering from profound delayed speech and motor development, moderate intellectual disability, neurologic and psychiatric symptoms as well as hypoplasia of corpus callosum and mildly reduced brain volume on brain magnetic resonance imaging associated with a recurrent <jats:italic>de novo<\/jats:italic> mutation in <jats:italic>CSDE1<\/jats:italic> (c.367C\u2009&gt;\u2009T; p.R123*) expanding the phenotypical spectrum associated with pathogenic <jats:italic>CSDE1<\/jats:italic> variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.62494","type":"journal-article","created":{"date-parts":[[2021,9,14]],"date-time":"2021-09-14T07:20:41Z","timestamp":1631604041000},"page":"283-291","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A <i>de novo<\/i><scp><i>CSDE1<\/i><\/scp> variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9975-0092","authenticated-orcid":false,"given":"Andrea","family":"Gangfu\u00df","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen  Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Canada"},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital University of Ottawa  Ottawa Canada"},{"name":"Brain and Mind Research Institute University of Ottawa  Ottawa Canada"},{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center \u2013 University of Freiburg, Faculty of Medicine  Freiburg Germany"},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG\u2010CRG), Center for Genomic Regulation Barcelona Institute of Science and Technology (BIST)  Barcelona Catalonia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre Translational and Clinical Research Institute, New\u2010castle University and Newcastle Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"O'Heir","sequence":"additional","affiliation":[{"name":"Program in Medical and Population Genetics Broad Institute of MIT and Harvard  Cambridge Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, John Van Geest Centre for Brain 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Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen  Essen Germany"},{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,9,14]]},"reference":[{"issue":"1","key":"e_1_2_10_2_1","first-page":"9","article-title":"Neue Wachstumskurven f\u00fcr die Schweiz","volume":"22","author":"Braegger 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