ArticleNature genetics2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
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Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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52citing papers in PubMed
21.1field-weighted citation impact, top 1% of its field
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Who cites it
52 citing papers in PubMed, 96 citations in OpenAlex.
- Article
- Mapping corpus callosum architecture: developmental, genetic, and cognitive correlates in youth.bioRxiv : the preprint server for biology · 2026Article
- Article
- Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish.Frontiers in molecular neuroscience · 2026Review
- Corticospinal Tract Development, Evolution, and Skilled Movements.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.Brain communications · 2025Article
- Glial interactions in the formation and plasticity of the corpus callosum.Frontiers in cellular neuroscience · 2025Review
- A human DCC variant causing mirror movement disorder reveals that the WAVE regulatory complex mediates axon guidance by netrin-1-DCC.Science signaling · 2024Article
- Ventricular Netrin-1 deficiency leads to defective pyramidal decussation and mirror movement in mice.Cell death & disease · 2024Article
- Report of a Novel Homozygous IntragenicMolecular syndromology · 2024Article
- Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements.Journal of clinical medicine · 2024Article
- Genetics of mirror movements identifies a multifunctional complex required for Netrin-1 guidance and lateralization of motor control.Science advances · 2023Article
- Examining the shared etiology of psychopathology with genome-wide association studies.Physiological reviews · 2023Review
- Article
- Corticolimbic DCC gene co-expression networks as predictors of impulsivity in children.Molecular psychiatry · 2022Article
- Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.Frontiers of medicine · 2021Article
- Integrating the Roles of Midbrain Dopamine Circuits in Behavior and Neuropsychiatric Disease.Biomedicines · 2021Review
- DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation.eLife · 2021Article
- Article
- A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.Journal of psychiatry & neuroscience : JPN · 2021Article
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Authors and funding
53 authors at 17 institutions in 6 countries.
Ashley P L MarshBruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.ORCID http://orcid.org/0000-0001-6049-6931
Delphine HeronAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
Timothy J EdwardsQueensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
Angélique QuartierIGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.ORCID http://orcid.org/0000-0002-2624-4869
Charles GaleaDrug Delivery, Disposition and Dynamics (D4), Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
Caroline NavaAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
Agnès RastetterINSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France.
Marie-Laure MoutardAP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France.
Vicki AndersonDevelopmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Pierre BitounGénétique Médicale, CHU Paris Nord, Hôpital Jean Verdier, Bondy, France.
Jens BuntQueensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.ORCID http://orcid.org/0000-0003-0397-2019
Anne FaudetAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
Catherine GarelAP-HP GHUEP, Hôpital Armand Trousseau, Service de Radiologie, Paris, France.
Greta GilliesBruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Ilan GobiusQueensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
Justine GueganiCONICS Facility, ICM, Paris, France.
Solveig HeideAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
Boris KerenAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
Fabien LesneAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
Vesna LukicBioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
Simone A MandelstamDepartment of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
George McGillivrayVictorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Alissandra McIlroyDevelopmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Aurélie MéneretINSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France.
Cyril MignotAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
Laura R MorcomQueensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
Sylvie OdentService de Génétique Clinique, Centre de Référence CLAD-Ouest, CHU Rennes, Rennes, France.
Annalisa PaolinoQueensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
Kate PopeBruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Florence RiantAP-HP, Groupe Hospitalier Saint-Louis -La Riboisière -Fernand Vidal, Laboratoire de Génétique, Paris, France.
Gail A RobinsonNeuropsychology Research Unit, School of Psychology, University of Queensland, Brisbane, Australia.
Megan Spencer-SmithDevelopmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Myriam SrourDepartment of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.
Sarah E M StephensonBruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Rick TankardPopulation Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
Oriane TrouillardINSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France.
Quentin WelniarzINSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France.
Amanda WoodDevelopmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Alexis BriceAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
Guy RouleauDepartment of Neurology and Neurosurgery, McGill University Health Center, Montreal, Quebec, Canada.
Tania Attié-BitachINSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris-Descartes University, Sorbonne Paris Cité and Imagine Institute, Paris, France.
Martin B DelatyckiBruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Jean-Louis MandelIGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.
David J AmorBruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Emmanuel RozeINSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France.
Amélie PitonIGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.ORCID http://orcid.org/0000-0003-0408-7468
Melanie BahloPopulation Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID http://orcid.org/0000-0001-5132-0774
Thierry Billette de VillemeurCentre de Référence `Déficiences Intellectuelles de Causes Rares', Paris, France.
Elliott H SherrDepartment of Neurology, UCSF Benioff Children's Hospital, San Francisco, California, USA.
Richard J LeventerDepartment of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
Linda J RichardsQueensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
Paul J LockhartBruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.ORCID http://orcid.org/0000-0003-2531-8413
Christel DepienneAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.ORCID http://orcid.org/0000-0002-7212-9554
Centre National de la Recherche Scientifique · FRRoyal Children's Hospital · AUSorbonne Université · FRThe University of Queensland · AUMurdoch Children's Research Institute · AUThe University of Melbourne · AUAssistance Publique – Hôpitaux de Paris · FRAston University · GBDélégation Paris 5 · FRHôpital Jean-Verdier · FRInserm · FRMonash University · AUMontreal Children's Hospital · CAMontreal Neurological Institute and Hospital · CAUCSF Benioff Children's Hospital · USVictorian Clinical Genetics Services · AUWalter and Eliza Hall Institute of Medical Research · AU
Funding
De novo copy number variation and gene discovery in human brain malformationsR01NS058721 · NINDS · UNIVERSITY OF CHICAGO · PI ARGILLI, EMANUELA · 2008 to 2025
$10.9MNINDS NIH HHS R01 NS058721
Abstract
Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.
Indexed as
Abnormalities, MultipleAgenesis of Corpus CallosumBrainCorpus CallosumDCC ReceptorDevelopmental DisabilitiesFamilyFemaleHumansMaleMutationNervous System MalformationsNeural Stem CellsPenetrancePhenotypeReceptors, Cell SurfaceDCC protein, humanDCC ReceptorReceptors, Cell SurfaceTumor Suppressor Proteins
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