{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T17:48:08Z","timestamp":1790531288810,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T00:00:00Z","timestamp":1581638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005268","name":"Queensland Brain Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003747","name":"Department of Health, State Government of Victoria","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003747","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT1059666"],"award-info":[{"award-number":["GNT1059666"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010663","name":"H2020 European Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Pathogenic variants in the gene encoding deleted in colorectal cancer (<jats:italic>DCC<\/jats:italic>) are the first genetic cause of isolated agenesis of the corpus callosum (ACC). Here we present the detailed neurological, brain magnetic resonance imaging (MRI), and neuropsychological characteristics of 12 individuals from three families with pathogenic variants in <jats:italic>DCC<\/jats:italic> (aged 8\u201350y), who showed ACC and mirror movements (<jats:italic>n<\/jats:italic>=5), mirror movements only (<jats:italic>n<\/jats:italic>=2), ACC only (<jats:italic>n<\/jats:italic>=3), or neither ACC nor mirror movements (<jats:italic>n<\/jats:italic>=2). There was heterogeneity in the neurological and neuroimaging features on brain MRI, and performance across neuropsychological domains ranged from extremely low (impaired) to within normal limits (average). Our findings show that ACC and\/or mirror movements are associated with low functioning in select neuropsychological domains and a <jats:italic>DCC<\/jats:italic> pathogenic variant alone is not sufficient to explain the disability.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n\n<jats:list-item><jats:p>Neuropsychological impairment severity is related to presence of mirror movements and\/or agenesis of the corpus callosum.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>A <jats:italic>DCC<\/jats:italic> pathogenic variant in isolation is associated with the best prognosis.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.14486","type":"journal-article","created":{"date-parts":[[2020,2,15]],"date-time":"2020-02-15T04:39:35Z","timestamp":1581741575000},"page":"758-762","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Callosal agenesis and congenital mirror movements: outcomes associated with <i>DCC<\/i> mutations"],"prefix":"10.1111","volume":"62","author":[{"given":"Megan","family":"Spencer\u2010Smith","sequence":"first","affiliation":[{"name":"Turner Institute for Brain and Mental Health and School of Psychological Sciences Monash University Melbourne Victoria Australia"},{"name":"Murdoch Children\u2019s Research Institute Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacquelyn L","family":"Knight","sequence":"additional","affiliation":[{"name":"School of Psychology The University of Queensland St Lucia Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Lacaze","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie Centre de R\u00e9f\u00e9rence pour les Malformations et Maladies Cong\u00e9nitales du Cervelet Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Irc5 Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Depienne","sequence":"additional","affiliation":[{"name":"INSERM U 1127 CNRS UMR 7225 Sorbonne Universit\u00e9s UPMC Univ Paris 06 UMR S 1127 Institut du Cerveau et de la Moelle \u00c9pini\u00e8re (ICM) Paris France"},{"name":"Institute of Human Genetics University Hospital Essen University Duisburg\u2010Essen Essen Germany"},{"name":"IGBMC CNRS UMR 7104\/INSERM U964\/Universit\u00e9 de Strasbourg Illkirch France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J","family":"Lockhart","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Melbourne Parkville Victoria Australia"},{"name":"Bruce Lefroy Centre for Genetic Health Research Murdoch Children\u2019s Research Institute Royal Children\u2019s Hospital Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda J","family":"Richards","sequence":"additional","affiliation":[{"name":"Queensland Brain Institute The University of Queensland St Lucia Brisbane Australia"},{"name":"School of Biomedical Sciences The University of Queensland St. Lucia Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Heron","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP Armand\u2010Trousseau and Piti\u00e9 Salp\u00eatri\u00e8re Hospital Paris France"},{"name":"Reference Center for Intellectual Disability of Rare Causes Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J","family":"Leventer","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne Parkville Victoria Australia"},{"name":"Department of Neurology Royal Children\u2019s Hospital Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0078-0364","authenticated-orcid":false,"given":"Gail A","family":"Robinson","sequence":"additional","affiliation":[{"name":"School of Psychology The University of Queensland St Lucia Brisbane Australia"},{"name":"Queensland Brain Institute The University of Queensland St Lucia Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3794"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.44.7.586"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt358"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006085"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000477"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.11.1152"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn293"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.4.715"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2107"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11689-010-9059-y"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23361"}],"container-title":["Developmental 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