{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T18:01:29Z","timestamp":1792519289716,"version":"4.5.0"},"reference-count":71,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T00:00:00Z","timestamp":1717459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Yale-NIH Center for Mendelian Genomics","award":["5U54HG006504"],"award-info":[{"award-number":["5U54HG006504"]}]},{"name":"Yale-NIH Center for Mendelian Genomics","award":["UW-CMG"],"award-info":[{"award-number":["UW-CMG"]}]},{"name":"Yale-NIH Center for Mendelian Genomics","award":["UM1HG006493"],"award-info":[{"award-number":["UM1HG006493"]}]},{"name":"Yale-NIH Center for Mendelian Genomics","award":["U24HG008956"],"award-info":[{"award-number":["U24HG008956"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 NS111029-01A1"],"award-info":[{"award-number":["R01 NS111029-01A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 NS109358"],"award-info":[{"award-number":["R01 NS109358"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 NS127879-01"],"award-info":[{"award-number":["R01 NS127879-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011765","name":"Rudi Schulte Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011765","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Congenital hydrocephalus, characterized by cerebral ventriculomegaly, is one of the most common reasons for paediatric brain surgery. Recent studies have implicated lin-41 (lineage variant 41)\/TRIM71 (tripartite motif 71) as a candidate congenital hydrocephalus risk gene; however, TRIM71 variants have not been systematically examined in a large patient cohort or conclusively linked with an OMIM syndrome.<\/jats:p>\n               <jats:p>Through cross-sectional analysis of the largest assembled cohort of patients with cerebral ventriculomegaly, including neurosurgically-treated congenital hydrocephalus (totalling 2697 parent-proband trios and 8091 total exomes), we identified 13 protein-altering de novo variants (DNVs) in TRIM71 in unrelated children exhibiting variable ventriculomegaly, congenital hydrocephalus, developmental delay, dysmorphic features and other structural brain defects, including corpus callosum dysgenesis and white matter hypoplasia.<\/jats:p>\n               <jats:p>Eight unrelated patients were found to harbour arginine variants, including two recurrent missense DNVs, at homologous positions in RPXGV motifs of different NHL domains. Seven patients with rare, damaging, unphased or transmitted variants of uncertain significance were also identified. NHL-domain variants of TRIM71 exhibited impaired binding to the canonical TRIM71 target CDKN1A; other variants failed to direct the subcellular localization of TRIM71 to processing bodies. Single-cell transcriptomic analysis of human embryos revealed expression of TRIM71 in early first-trimester neural stem cells of the brain.<\/jats:p>\n               <jats:p>These data show TRIM71 is essential for human brain morphogenesis and that TRIM71 mutations cause a novel neurodevelopmental syndrome that we term \u2018TRIM71-associated developmental disorders (TADD)\u2019, featuring variable ventriculomegaly, congenital hydrocephalus and other structural brain defects.<\/jats:p>","DOI":"10.1093\/brain\/awae175","type":"journal-article","created":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T01:37:58Z","timestamp":1717551478000},"page":"4292-4305","source":"Crossref","is-referenced-by-count":25,"title":["<i>TRIM71<\/i> mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus"],"prefix":"10.1093","volume":"147","author":[{"given":"Phan Q","family":"Duy","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, University of Virginia School of Medicine , Charlottesville, VA 22908 ,","place":["USA"]},{"name":"Department of Neurosurgery, Yale University School of Medicine , New Haven, CT 06510 ,","place":["USA"]},{"name":"Department of Neuroscience, University of Virginia School of Medicine , Charlottesville, VA 22908 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"Jux","sequence":"additional","affiliation":[{"name":"Molecular Immunology and Cell Biology, Life & Medical Sciences Institute (LiMES), University of Bonn , Bonn 53012 ,","place":["Germany"]}],"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"]},{"name":"Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02114 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