{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T20:00:04Z","timestamp":1785700804665,"version":"3.56.0"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T00:00:00Z","timestamp":1708560000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["418081722"],"award-info":[{"award-number":["418081722"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["433158657"],"award-info":[{"award-number":["433158657"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DI 1731\/2-3"],"award-info":[{"award-number":["DI 1731\/2-3"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["701900167"],"award-info":[{"award-number":["701900167"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"National Institute of Health and Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["3HP-HP-FPA ERN-01-2016\/739516"],"award-info":[{"award-number":["3HP-HP-FPA ERN-01-2016\/739516"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Neurodevelopmental disorders are major indications for genetic referral and have been linked to more than 1500 loci including genes encoding transcriptional regulators. The dysfunction of transcription factors often results in characteristic syndromic presentations; however, at least half of these patients lack a genetic diagnosis. The implementation of machine learning approaches has the potential to aid in the identification of new disease genes and delineate associated phenotypes.<\/jats:p>\n               <jats:p>Next generation sequencing was performed in seven affected individuals with neurodevelopmental delay and dysmorphic features. Clinical characterization included reanalysis of available neuroimaging datasets and 2D portrait image analysis with GestaltMatcher. The functional consequences of ZSCAN10 loss were modelled in mouse embryonic stem cells (mESCs), including a knockout and a representative ZSCAN10 protein truncating variant. These models were characterized by gene expression and western blot analyses, chromatin immunoprecipitation and quantitative PCR (ChIP-qPCR) and immunofluorescence staining. Zscan10 knockout mouse embryos were generated and phenotyped.<\/jats:p>\n               <jats:p>We prioritized bi-allelic ZSCAN10 loss-of-function variants in seven affected individuals from five unrelated families as the underlying molecular cause. RNA-sequencing analyses in Zscan10\u2212\/\u2212 mESCs indicated dysregulation of genes related to stem cell pluripotency. In addition, we established in mESCs the loss-of-function mechanism for a representative human ZSCAN10 protein truncating variant by showing alteration of its expression levels and subcellular localization, interfering with its binding to DNA enhancer targets. Deep phenotyping revealed global developmental delay, facial asymmetry and malformations of the outer ear as consistent clinical features. Cerebral MRI showed dysplasia of the semicircular canals as an anatomical correlate of sensorineural hearing loss. Facial asymmetry was confirmed as a clinical feature by GestaltMatcher and was recapitulated in the Zscan10 mouse model along with inner and outer ear malformations.<\/jats:p>\n               <jats:p>Our findings provide evidence of a novel syndromic neurodevelopmental disorder caused by bi-allelic loss-of-function variants in ZSCAN10.<\/jats:p>","DOI":"10.1093\/brain\/awae058","type":"journal-article","created":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T19:05:44Z","timestamp":1708628744000},"page":"2471-2482","source":"Crossref","is-referenced-by-count":11,"title":["ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2506-1961","authenticated-orcid":false,"given":"Lucia","family":"Laugwitz","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of Tuebingen , T\u00fcbingen, 72076 , Germany"},{"name":"Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of T\u00fcbingen , T\u00fcbingen 72076 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7215-8593","authenticated-orcid":false,"given":"Fubo","family":"Cheng","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of Tuebingen , T\u00fcbingen, 72076 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan C","family":"Collins","sequence":"additional","affiliation":[{"name":"Inserm UMR1231, Universit\u00e9 de Bourgogne , Dijon Cedex 21070 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Hustinx","sequence":"additional","affiliation":[{"name":"Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universit\u00e4t Bonn , Bonn 53127 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Navarro","sequence":"additional","affiliation":[{"name":"Biogeosciences, UMR 6282 CNRS, EPHE, Universit\u00e9 de Bourgogne , Dijon 2100 , France"},{"name":"EPHE, PSL University , Paris 75014 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Welsch","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University , D\u00fcsseldorf 40225 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Cox","sequence":"additional","affiliation":[{"name":"West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women\u2019s and Children\u2019s Hospitals NHS Foundation Trust , Birmingham B15 2TG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tzung-Chien","family":"Hsieh","sequence":"additional","affiliation":[{"name":"Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universit\u00e4t Bonn , Bonn 53127 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aswinkumar","family":"Vijayananth","sequence":"additional","affiliation":[{"name":"Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universit\u00e4t Bonn , Bonn 53127 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Buchert","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of Tuebingen , T\u00fcbingen, 72076 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Bender","sequence":"additional","affiliation":[{"name":"Diagnostic and Interventional Neuroradiology, Radiologic Clinics, University of T\u00fcbingen , T\u00fcbingen 72076 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4900-9877","authenticated-orcid":false,"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG , 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