{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T07:41:37Z","timestamp":1774683697730,"version":"3.50.1"},"reference-count":61,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T00:00:00Z","timestamp":1753660800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"SickKids Psychiatry Associates"},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG007709"],"award-info":[{"award-number":["U01HG007709"]}],"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":["U01HG007942"],"award-info":[{"award-number":["U01HG007942"]}],"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":["P50HD103555"],"award-info":[{"award-number":["P50HD103555"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100022221","name":"SickKids Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100022221","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>DENND2B is a DENN (differentially expressed in normal and neoplastic cells) domain-containing protein that has important roles in regulating the cell cycle, cell division and ciliogenesis, but to date has not been associated with any human disease.<\/jats:p>\n                  <jats:p>Here, we report on 11 individuals with monoallelic variants in DENND2B with a shared constellation of features and perform in silico and in vivo zebrafish modelling of the DENND2B variants identified in these patients.<\/jats:p>\n                  <jats:p>Features shared among these patients include developmental delay, intellectual disability and psychiatric\/behavioural concerns, and episodes of psychosis and\/or catatonia. Additional features common to our cohort include epilepsy, muscle weakness\/hypotonia and a wide range of congenital anomalies across different organ systems. Identified patient variants affect well-conserved amino acids and are predicted to be deleterious to DENND2B function by in silico prediction algorithms and structural modelling. Nine of the 10 observed patient variants were modelled in zebrafish and confirmed to result in loss of DENND2B function.<\/jats:p>\n                  <jats:p>Altogether, these findings suggest that monoallelic loss-of-function variants in DENND2B cause a novel autosomal dominant neurodevelopmental disorder with variable vulnerability to psychosis and\/or catatonia.<\/jats:p>","DOI":"10.1093\/brain\/awaf273","type":"journal-article","created":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T11:48:58Z","timestamp":1753530538000},"page":"252-261","source":"Crossref","is-referenced-by-count":2,"title":["Variants in\n                    <i>DENND2B<\/i>\n                    are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia"],"prefix":"10.1093","volume":"149","author":[{"given":"Harsha","family":"Murthy","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Program in Developmental and Stem Cell Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ny","family":"Hoang","sequence":"additional","affiliation":[{"name":"Department of Genetic Counselling, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, ON M5S 1A1 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamie C","family":"Stark","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Program in Developmental and Stem Cell Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, ON M5S 1A1 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunny","family":"Cui","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5131-9543","authenticated-orcid":false,"given":"Emanuela","family":"Pannia","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung Ting","family":"Tsoi","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Program in Developmental and Stem Cell Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Harris","sequence":"additional","affiliation":[{"name":"Program in Developmental and Stem Cell Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, ON M5S 1A1 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u2019airah","family":"Ceolin","sequence":"additional","affiliation":[{"name":"Program in Developmental and Stem Cell Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Verhaeghe","sequence":"additional","affiliation":[{"name":"Program in Developmental and Stem Cell Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, ON M5S 1A1 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sydney","family":"Scholten","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Program in Developmental and Stem Cell Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle","family":"Baribeau","sequence":"additional","affiliation":[{"name":"Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital , Toronto, ON M4G 1R8 ,","place":["Canada"]},{"name":"Department of Psychiatry, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Department of Psychiatry, Temerty Faculty of Medicine, University of Toronto , Toronto, ON M5S 1A1 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane","family":"Summers","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Department of Psychiatry, Temerty Faculty of Medicine, University of Toronto , Toronto, ON M5S 1A1 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0099-9945","authenticated-orcid":false,"given":"Gregory","family":"Costain","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, ON M5S 1A1 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Suzanne","family":"Lewis","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, BC Children\u2019s Hospital Research Institute, The University of British Columbia , Vancouver, BC V6H 3N1 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5183-780X","authenticated-orcid":false,"given":"Theresa","family":"Brunet","sequence":"additional","affiliation":[{"name":"Technical University of Munich, School of Medicine, Institute of Human Genetics , Munich 81675 ,","place":["Germany"]},{"name":"Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr von Hauner Children\u2019s Hospital, LMU Hospital, Ludwig-Maximilians-University , Munich 80336 ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Rieger","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I, University Children\u2019s Hospital, Heidelberg , Heidelberg 69120 ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill A","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Baylor Genetics Laboratories , Houston, TX 77021 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William J","family":"Craigen","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5108-8861","authenticated-orcid":false,"given":"Lindsay C","family":"Burrage","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle R","family":"Christie","sequence":"additional","affiliation":[{"name":"Division of Neurology and Rehabilitation, Scottish Rite for Children , Dallas, TX 75219 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Baldwin","sequence":"additional","affiliation":[{"name":"Division of Neurology and Rehabilitation, Scottish Rite for Children , Dallas, TX 75219 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid M","family":"Wentzensen","sequence":"additional","affiliation":[{"name":"Clinical Genetics and Genomics, GeneDx , Gaithersburg, MD 20877 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique m\u00e9dicale, GH Piti\u00e9 Salp\u00eatri\u00e8re, APHP, Sorbonne 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,","place":["Kuwait"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7831-4593","authenticated-orcid":false,"given":"Kenneth A","family":"Myers","sequence":"additional","affiliation":[{"name":"Department of Child Health and Human Development, Research Institute of the McGill University Health Centre , Montreal, QC H3H 2R9 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott","family":"Demarest","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neurology, School of Medicine, University of Colorado Precision Medicine Institute, Children\u2019s Hospital Colorado , Aurora, CO 80045 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katie","family":"Angione","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neurology, School of Medicine, University of Colorado Precision Medicine Institute, Children\u2019s Hospital Colorado , Aurora, CO 80045 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan","family":"Abbott","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neurology, School of Medicine, University of Colorado Precision Medicine Institute, Children\u2019s Hospital Colorado , Aurora, CO 80045 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe M","family":"Campeau","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, CHU Sainte Justine Research Center, University of Montreal , Montreal, QC H3T 1C5 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3984-4169","authenticated-orcid":false,"given":"James J","family":"Dowling","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, ON M5G 0A4 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Genome Biology, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Department of Psychiatry, The Hospital for Sick Children , Toronto, ON M5G 0A4 ,","place":["Canada"]},{"name":"Department of Psychiatry, Temerty Faculty of Medicine, University of Toronto , Toronto, ON M5S 1A1 ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,7,28]]},"reference":[{"key":"2026010812424604500_awaf273-B1","doi-asserted-by":"crossref","first-page":"13791","DOI":"10.1074\/jbc.R110.217067","article-title":"DENN domain proteins: Regulators of Rab GTPases","volume":"286","author":"Marat","year":"2011","journal-title":"J Biol Chem"},{"key":"2026010812424604500_awaf273-B2","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1083\/jcb.201008051","article-title":"Family-wide characterization of the DENN domain Rab GDP-GTP exchange 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