{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T11:22:50Z","timestamp":1788348170782,"version":"build-2803163510"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T00:00:00Z","timestamp":1728950400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100023871","name":"Kerkut Charitable Trust","doi-asserted-by":"publisher","award":["678302-NEUROMET"],"award-info":[{"award-number":["678302-NEUROMET"]}],"id":[{"id":"10.13039\/501100023871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020643","name":"MRC","doi-asserted-by":"publisher","award":["MR\/V012177\/1"],"award-info":[{"award-number":["MR\/V012177\/1"]}],"id":[{"id":"10.13039\/501100020643","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["212942\/Z\/18\/Z"],"award-info":[{"award-number":["212942\/Z\/18\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case series of 11 patients with neurodevelopmental phenotypes harbouring de novo monoallelic variants in DDX17. All 11 patients in our case series had a neurodevelopmental phenotype, whereby intellectual disability, delayed speech and language, and motor delay predominated.<\/jats:p>\n               <jats:p>We performed in utero cortical electroporation in the brain of developing mice, assessing axon complexity and outgrowth of electroporated neurons, comparing wild-type and Ddx17 knockdown. We then undertook ex vivo cortical electroporation on neuronal progenitors to quantitatively assess axonal development at a single cell resolution. Mosaic ddx17 crispants and heterozygous knockouts in Xenopus tropicalis were generated for assessment of morphology, behavioural assays and neuronal outgrowth measurements. We further undertook transcriptomic analysis of neuroblastoma SH-SY5Y cells, to identify differentially expressed genes in DDX17-KD cells compared to controls.<\/jats:p>\n               <jats:p>Knockdown of Ddx17 in electroporated mouse neurons in vivo showed delayed neuronal migration as well as decreased cortical axon complexity. Mouse primary cortical neurons revealed reduced axon outgrowth upon knockdown of Ddx17 in vitro. The axon outgrowth phenotype was replicated in crispant ddx17 tadpoles and in heterozygotes. Heterozygous tadpoles had clear neurodevelopmental defects and showed an impaired neurobehavioral phenotype. Transcriptomic analysis identified a statistically significant number of differentially expressed genes involved in neurodevelopmental processes in DDX17-KD cells compared to control cells.<\/jats:p>\n               <jats:p>We have identified potential neurodevelopment disease-causing variants in a gene not previously associated with genetic disease, DDX17. We provide evidence for the role of the gene in neurodevelopment in both mammalian and non-mammalian species and in controlling the expression of key neurodevelopment genes.<\/jats:p>","DOI":"10.1093\/brain\/awae320","type":"journal-article","created":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T16:50:59Z","timestamp":1729011059000},"page":"1155-1168","source":"Crossref","is-referenced-by-count":7,"title":["Monoallelic <i>de novo<\/i> variants in <i>DDX17<\/i> cause a neurodevelopmental disorder"],"prefix":"10.1093","volume":"148","author":[{"given":"Eleanor G","family":"Seaby","sequence":"first","affiliation":[{"name":"Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton , Southampton SO16 6YD ,","place":["UK"]},{"name":"Translational Genomics Group, Broad Institute of MIT and Harvard , Cambridge, MA, 02142 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,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Grand","sequence":"additional","affiliation":[{"name":"Laboratoire de Biologie et Mod\u00e9lisation de la Cellule, Ecole Normale Sup\u00e9rieure de Lyon, CNRS UMR5239, INSERM U1293, Universit\u00e9 Claude Bernard Lyon 1 , Lyon 69007 ,","place":["France"]},{"name":"INSERM U1052, CNRS UMR5286, Cancer Research Center of Lyon (CRCL), Universit\u00e9 Claude Bernard Lyon 1 , Lyon 69008 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tia","family":"Fletcher","sequence":"additional","affiliation":[{"name":"European Xenopus Resource Centre, School of Environmental and Life Sciences, University of Portsmouth , Portsmouth PO1 2DT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laloe","family":"Monteiro","sequence":"additional","affiliation":[{"name":"Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS 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