{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T14:13:27Z","timestamp":1790950407318,"version":"4.1.0"},"reference-count":68,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:00:00Z","timestamp":1658188800000},"content-version":"vor","delay-in-days":15,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"name":"KAKENHI Grant-in-Aid for Scientific Research","award":["JP19H03629"],"award-info":[{"award-number":["JP19H03629"]}]},{"name":"KAKENHI Grant-in-Aid for Scientific Research","award":["JP19K07059"],"award-info":[{"award-number":["JP19K07059"]}]},{"name":"KAKENHI Grant-in-Aid for Scientific Research","award":["JP20K22888"],"award-info":[{"award-number":["JP20K22888"]}]},{"name":"KAKENHI Grant-in-Aid for Scientific Research","award":["JP21K15895"],"award-info":[{"award-number":["JP21K15895"]}]},{"name":"Practical Research Project for Rare\/Intractable Diseases from Japan Agency for Medical Research and Development","award":["15ek0109040h0002"],"award-info":[{"award-number":["15ek0109040h0002"]}]},{"name":"United States National Institutes of Health","award":["NHGRI\/NHLBI UM1HG006542"],"award-info":[{"award-number":["NHGRI\/NHLBI UM1HG006542"]}]},{"name":"United States National Institutes of Health","award":["NHGRI U01HG011758"],"award-info":[{"award-number":["NHGRI U01HG011758"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,14]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism.<\/jats:p>\n               <jats:p>We investigated a cohort of 10 unrelated participants presenting with global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures and musculoskeletal abnormalities. MRI of brain revealed a complex pattern of variable brain malformations, including callosal abnormalities, white matter thinning, grey matter heterotopia, polymicrogyria\/dysgyria, brainstem anomalies and cerebellar dysplasia. These patients harboured eight distinct de novo RAC3 variants, including six novel variants (NM_005052.3): c.34G\u2009&amp;gt;\u2009C p.G12R, c.179G\u2009&amp;gt;\u2009A p.G60D, c.186_188delGGA p.E62del, c.187G\u2009&amp;gt;\u2009A p.D63N, c.191A\u2009&amp;gt;\u2009G p.Y64C and c.348G\u2009&amp;gt;\u2009C p.K116N. We then examined the pathophysiological significance of these novel and previously reported pathogenic variants p.P29L, p.P34R, p.A59G, p.Q61L and p.E62K. In vitro analyses revealed that all tested RAC3 variants were biochemically and biologically active to variable extent, and exhibited a spectrum of different affinities to downstream effectors including p21-activated kinase 1. We then focused on the four variants p.Q61L, p.E62del, p.D63N and p.Y64C in the Switch II region, which is essential for the biochemical activity of small GTPases and also a variation hot spot common to other Rho family genes, RAC1 and CDC42. Acute expression of the four variants in embryonic mouse brain using in utero electroporation caused defects in cortical neuron morphology and migration ending up with cluster formation during corticogenesis. Notably, defective migration by p.E62del, p.D63N and p.Y64C were rescued by a dominant negative version of p21-activated kinase 1.<\/jats:p>\n               <jats:p>Our results indicate that RAC3 variants result in morphological and functional defects in cortical neurons during brain development through variant-specific mechanisms, eventually leading to heterogeneous neurodevelopmental phenotypes.<\/jats:p>","DOI":"10.1093\/brain\/awac106","type":"journal-article","created":{"date-parts":[[2022,3,19]],"date-time":"2022-03-19T12:08:56Z","timestamp":1647691736000},"page":"3308-3327","source":"Crossref","is-referenced-by-count":51,"title":["Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes"],"prefix":"10.1093","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2194-7239","authenticated-orcid":false,"given":"Marcello","family":"Scala","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa , Genoa , Italy"},{"name":"Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy"},{"name":"Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center , 713-8 Kamiya, Kasugai 480-0392 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Nishikawa","sequence":"additional","affiliation":[{"name":"Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center , 713-8 Kamiya, Kasugai 480-0392 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidenori","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center , 713-8 Kamiya, Kasugai 480-0392 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidenori","family":"Tabata","sequence":"additional","affiliation":[{"name":"Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center , 713-8 Kamiya, Kasugai 480-0392 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayyaba","family":"Khan","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology, Research Institute, The Hospital for Sick Children , Toronto, Ontario , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Accogli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa , Genoa , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Davids","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory Healthcare , Atlanta, GA 30322 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Ruiz","sequence":"additional","affiliation":[{"name":"Genetics Laboratory, UDIAT-Centre Diagn\u00f2stic, Parc Taul\u00ed Hospital Universitari, Institut d'Investigaci\u00f3 i Innovaci\u00f3 Parc Taul\u00ed I3PT, Universitat Aut\u00f2noma de , Barcelona, Sabadell , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5104-1521","authenticated-orcid":false,"given":"Pietro","family":"Chiurazzi","sequence":"additional","affiliation":[{"name":"Dipartimento Universitario Scienze della Vita e Sanit\u00e0 Pubblica, Sezione di Medicina Genomica, Universit\u00e0 Cattolica Sacro Cuore , Rome , Italy"},{"name":"Genetica Medica, Fondazione Policlinico Universitario A. 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