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DDX39B is also a core component of the TRanscription-EXport (TREX) super protein complex, and recent studies have highlighted the important role of its subunits in neurodevelopmental disorders. Here, we describe six individuals from five families, four harbouring de novo missense variants in DDX39B and one with an inherited splicing variant, presenting with variable developmental delay, congenital hypotonia, epilepsy, short stature, skeletal abnormalities, dysmorphic features and microcephaly in three patients.<\/jats:p>\n                  <jats:p>3D molecular modelling predicts these variants would alter protein structure. In vitro studies using overexpression of HA-tagged human DDX39B protein in 293FT cells revealed variants p.(Gly92Asp) and c.433-1G&amp;gt;T impaired interaction with DDX39B and other TREX complex members, while variants p.(Gly37Cys), p.(Ser44Arg) and p.(Arg123Gln) did not affect TREX complex assembly. Blood transcriptomics studies demonstrated significantly elevated aberrant splicing events in individuals carrying the p.(Gly37Cys), p.(Arg123Gln) or c.433-1G&amp;gt;T variant, compared to controls, suggesting a mRNA signature of disrupted mRNA splicing and export. To understand variant effects in vivo, we generated Drosophila transgenic DDX39B-reference and variant flies. Human reference DDX39B, when overexpressed ubiquitously, led to lethality, but the patient variants did not, suggesting that the mutants are loss-of-function alleles. Zebrafish anti-sense morpholino knockdown of DDX39B led to reduced head size and body length consistent with the patient phenotypes, and these effects were mitigated by synthesized mRNA, indicating a loss-of-function effect of DDX39B.<\/jats:p>\n                  <jats:p>Collectively, our human genetic data, coupled with in silico, in vitro and in vivo data, support DDX39B as a novel candidate gene in a potential group of disorders called TREX-complex-related neurodevelopmental syndrome.<\/jats:p>","DOI":"10.1093\/brain\/awaf035","type":"journal-article","created":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T06:37:11Z","timestamp":1738910231000},"page":"2658-2670","source":"Crossref","is-referenced-by-count":12,"title":["<i>De novo<\/i>\n                    and inherited variants in\n                    <i>DDX39B<\/i>\n                    cause a novel neurodevelopmental syndrome"],"prefix":"10.1093","volume":"148","author":[{"given":"Kevin T A","family":"Booth","sequence":"first","affiliation":[{"name":"Indiana University School of Medicine, Department of Medical and Molecular Genetics, Undiagnosed Rare Disease Clinic , Indianapolis, IN 46202 ,","place":["USA"]},{"name":"Indiana University School of Medicine , Department of Medical and Molecular Genetics, Indianapolis, IN 46202 ,","place":["USA"]},{"name":"Department of Otolaryngology-Head and Neck Surgery, Indiana University School of Medicine , Indianapolis, IN 46202 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharayu V","family":"Jangam","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Center for Precision Medicine Modeling, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital , Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin M C","family":"Chui","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong , Hong Kong 999077,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayla","family":"Treat","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine, Department of Medical and Molecular Genetics, Undiagnosed Rare Disease Clinic , Indianapolis, IN 46202 ,","place":["USA"]},{"name":"Indiana University School of Medicine , Department of Medical and Molecular Genetics, Indianapolis, IN 46202 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Graziani","sequence":"additional","affiliation":[{"name":"Scuola Internazionale Superiore di Studi Avanzati , Trieste 34136 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Soldano","sequence":"additional","affiliation":[{"name":"Scuola Internazionale Superiore di Studi Avanzati , Trieste 34136 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yao","family":"Ruan","sequence":"additional","affiliation":[{"name":"Department of Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong , Hong Kong 999077,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Wan-Hei Hui","sequence":"additional","affiliation":[{"name":"Department of Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong , Hong Kong 999077,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerry","family":"White","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine , Department of Medical and Molecular Genetics, Indianapolis, IN 46202 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celanie K","family":"Christensen","sequence":"additional","affiliation":[{"name":"Children\u2019s Health Ireland , Dublin D12 N512, Republic of Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ty","family":"Lynnes","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine , Department of Medical and Molecular Genetics, Indianapolis, IN 46202 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2172-8036","authenticated-orcid":false,"given":"Shinya","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Center for Precision Medicine Modeling, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital , Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oguz","family":"Kanca","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Center for Precision Medicine Modeling, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital , Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mandy H Y","family":"Tsang","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong , Hong Kong 999077,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally A","family":"Lynch","sequence":"additional","affiliation":[{"name":"Children\u2019s Health Ireland , Dublin D12 N512, Republic of Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sureni V","family":"Mullegama","sequence":"additional","affiliation":[{"name":"GeneDx , Gaithersburg 20877, MD ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Baptista","sequence":"additional","affiliation":[{"name":"University of Plymouth , Plymouth PL4 8AA ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Iancu","sequence":"additional","affiliation":[{"name":"University College of London , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelagh K","family":"Joss","sequence":"additional","affiliation":[{"name":"West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital , Glasgow G2 3DH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra Y Y","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong , Hong Kong 999077,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher C Y","family":"Mak","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong , Hong Kong 999077,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna K Y","family":"Kwong","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong , Hong Kong 999077,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo J","family":"Bellen","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Center for Precision Medicine Modeling, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital , Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Conboy","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine, Department of Medical and Molecular Genetics, Undiagnosed Rare Disease Clinic , Indianapolis, IN 46202 ,","place":["USA"]},{"name":"Indiana University School of Medicine , Department of Medical and Molecular Genetics, Indianapolis, IN 46202 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Remo","family":"Sanges","sequence":"additional","affiliation":[{"name":"Scuola Internazionale Superiore di Studi Avanzati , Trieste 34136 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anskar Yu-Hung","family":"Leung","sequence":"additional","affiliation":[{"name":"Department of Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong , Hong Kong 999077,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael F","family":"Wangler","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Center for Precision Medicine Modeling, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children\u2019s Hospital , 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