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Eight unrelated patients with ventriculomegaly, developmental delay and dysmorphic features harboured loss-of-function de novo variants that truncate carboxy-terminal LIM interaction domain of LDB1, which regulates assembly of LIM homeodomain-containing transcriptional modulators.<\/jats:p>\n                  <jats:p>Integrative multiomic analyses suggest that LDB1 is a key transcriptional regulator in ventricular neuroprogenitors through its binding to LIM-homeodomain proteins, including SMARCC1 and ARID1B. Indeed, LIM-homeodomain-containing genes carry a disproportionate burden of protein-damaging de novo variants in our cohort, with SMARCC1 (P = 5.83 \u00d7 10\u22129) and ARID1B (P = 1.80 \u00d7 10\u221217) surpassing exome-wide significance thresholds.<\/jats:p>\n                  <jats:p>These data identify LBD1 as a novel neurodevelopmental disorder gene and suggest that an LDB1-regulated transcriptional programme is essential for human brain morphogenesis.<\/jats:p>","DOI":"10.1093\/brain\/awae395","type":"journal-article","created":{"date-parts":[[2024,12,14]],"date-time":"2024-12-14T15:24:06Z","timestamp":1734189846000},"page":"1817-1828","source":"Crossref","is-referenced-by-count":5,"title":["<i>De novo<\/i>\n                    variants disrupt an\n                    <i>LDB1<\/i>\n                    -regulated transcriptional network in congenital ventriculomegaly"],"prefix":"10.1093","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5458-6129","authenticated-orcid":false,"given":"Garrett","family":"Allington","sequence":"first","affiliation":[{"name":"Department of Pathology, Yale University School of Medicine , New Haven, CT 06510 ,","place":["USA"]},{"name":"Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School , Boston, MA 02114 ,","place":["USA"]},{"name":"Department of Neurosurgery, Yale University School of Medicine , New Haven, CT 06510 ,","place":["USA"]},{"name":"Department of Neurology, New York Presbyterian Hospital & Columbia University Vagelos College of Physicians and Surgeons , New York, NY 10032 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neel H","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School , Boston, MA 02114 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,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emre","family":"Kiziltug","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School , Boston, MA 02114 ,","place":["USA"]},{"name":"Department of Neurosurgery, Yale University School of Medicine , New Haven, CT 06510 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuang","family":"Chen","sequence":"additional","affiliation":[{"name":"School of Pharmacy, University College London , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shujuan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Genetics, School of Medicine, Washington University , St. Louis, MO 63110 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phan Q","family":"Duy","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University of Virginia School of Medicine , Charlottesville, VA 22903 ,","place":["USA"]},{"name":"Department of Neuroscience, University of Virginia School of Medicine , Charlottesville, VA 22903 ,","place":["USA"]},{"name":"Center for Brain Immunology and Glia, University of Virginia School of Medicine , Charlottesville, VA 22903 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Saleh","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Department of Pediatrics, London Health Sciences Centre , London, Ontario N6A 5W9 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee C","family":"Ang","sequence":"additional","affiliation":[{"name":"Department of Pathology, London Health Sciences Centre and Western University , London, Ontario N6A 5C1 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baojian","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Nelson-Williams","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University School of Medicine , New Haven, CT 06510 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Moreno-de-Luca","sequence":"additional","affiliation":[{"name":"Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen\u2019s University Faculty of Health Sciences , Kingston, Ontario K7L 2V7 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2650-2925","authenticated-orcid":false,"given":"Shozeb","family":"Haider","sequence":"additional","affiliation":[{"name":"School of Pharmacy, University College London , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P","family":"Lifton","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics and Genomics, The Rockefeller University , New York, NY 10065 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth L","family":"Alper","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center , Boston, MA 02215 ,","place":["USA"]},{"name":"Department of Medicine, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]},{"name":"Broad Institute of Harvard and MIT , Cambridge, MA 02142 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"McGee","sequence":"additional","affiliation":[{"name":"GeneDx , Gaithersburg, MD 20877 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5777-7262","authenticated-orcid":false,"given":"Sheng Chih","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Genetics, School of Medicine, Washington University , St. Louis, MO 63110 ,","place":["USA"]},{"name":"Department of Pediatrics, School of Medicine, Washington University , St. Louis, MO 63110 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5922-7547","authenticated-orcid":false,"given":"Kristopher T","family":"Kahle","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Massachusetts General Hospital & Harvard Medical School , Boston, MA 02114 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