title: Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
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.
authors.affiliation: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.|Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
authors.forename: Ashley P L
authors.identifier: http://orcid.org/0000-0001-6049-6931
authors.initials: AP
authors.lastname: Marsh
authors.affiliation: AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.|Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France.|Centre de Référence `Déficiences Intellectuelles de Causes Rares', Paris, France.
authors.forename: Delphine
authors.initials: D
authors.lastname: Heron
authors.affiliation: Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.|School of Medicine, University of Queensland, Herston, Brisbane, Australia.
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Edwards
authors.affiliation: IGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.
authors.forename: Angélique
authors.identifier: http://orcid.org/0000-0002-2624-4869
authors.initials: A
authors.lastname: Quartier
authors.affiliation: Drug Delivery, Disposition and Dynamics (D4), Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
authors.forename: Charles
authors.initials: C
authors.lastname: Galea
authors.affiliation: AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.|INSERM, 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.
authors.forename: Caroline
authors.initials: C
authors.lastname: Nava
authors.affiliation: INSERM, 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.
authors.forename: Agnès
authors.initials: A
authors.lastname: Rastetter
authors.affiliation: AP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France.|UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.|Centre de Référence `Neurogénétique', Paris, France.
authors.forename: Marie-Laure
authors.initials: ML
authors.lastname: Moutard
authors.affiliation: Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
authors.forename: Vicki
authors.initials: V
authors.lastname: Anderson
authors.affiliation: Génétique Médicale, CHU Paris Nord, Hôpital Jean Verdier, Bondy, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Bitoun
authors.affiliation: Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
authors.forename: Jens
authors.identifier: http://orcid.org/0000-0003-0397-2019
authors.initials: J
authors.lastname: Bunt
authors.affiliation: AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Faudet
authors.affiliation: AP-HP GHUEP, Hôpital Armand Trousseau, Service de Radiologie, Paris, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Garel
authors.affiliation: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: Greta
authors.initials: G
authors.lastname: Gillies
authors.affiliation: Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
authors.forename: Ilan
authors.initials: I
authors.lastname: Gobius
authors.affiliation: iCONICS Facility, ICM, Paris, France.
authors.forename: Justine
authors.initials: J
authors.lastname: Guegan
authors.affiliation: AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.|Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France.
authors.forename: Solveig
authors.initials: S
authors.lastname: Heide
authors.affiliation: AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.|INSERM, 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.
authors.forename: Boris
authors.initials: B
authors.lastname: Keren
authors.affiliation: AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
authors.forename: Fabien
authors.initials: F
authors.lastname: Lesne
authors.affiliation: Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
authors.forename: Vesna
authors.initials: V
authors.lastname: Lukic
authors.affiliation: Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.|Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.|Department of Radiology, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: Simone A
authors.initials: SA
authors.lastname: Mandelstam
authors.affiliation: Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
authors.forename: George
authors.initials: G
authors.lastname: McGillivray
authors.affiliation: Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
authors.forename: Alissandra
authors.initials: A
authors.lastname: McIlroy
authors.affiliation: INSERM, 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.|AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Neurologie, Paris, France.
authors.forename: Aurélie
authors.initials: A
authors.lastname: Méneret
authors.affiliation: AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.|Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France.|Centre de Référence `Déficiences Intellectuelles de Causes Rares', Paris, France.
authors.forename: Cyril
authors.initials: C
authors.lastname: Mignot
authors.affiliation: Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
authors.forename: Laura R
authors.initials: LR
authors.lastname: Morcom
authors.affiliation: Service de Génétique Clinique, Centre de Référence CLAD-Ouest, CHU Rennes, Rennes, France.|UMR 6290 CNRS, IGDR Institut de Génétique et Développement de Rennes, Université de Rennes 1, Rennes, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.affiliation: Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Paolino
authors.affiliation: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: Kate
authors.initials: K
authors.lastname: Pope
authors.affiliation: AP-HP, Groupe Hospitalier Saint-Louis -La Riboisière -Fernand Vidal, Laboratoire de Génétique, Paris, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Riant
authors.affiliation: Neuropsychology Research Unit, School of Psychology, University of Queensland, Brisbane, Australia.
authors.forename: Gail A
authors.initials: GA
authors.lastname: Robinson
authors.affiliation: Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.|School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Clayton, Victoria, Australia.
authors.forename: Megan
authors.initials: M
authors.lastname: Spencer-Smith
authors.affiliation: Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.|Department of Neurology and Neurosurgery, McGill University Health Center, Montreal, Quebec, Canada.
authors.forename: Myriam
authors.initials: M
authors.lastname: Srour
authors.affiliation: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.|Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
authors.forename: Sarah E M
authors.initials: SE
authors.lastname: Stephenson
authors.affiliation: Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.|Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.
authors.forename: Rick
authors.initials: R
authors.lastname: Tankard
authors.affiliation: INSERM, 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.
authors.forename: Oriane
authors.initials: O
authors.lastname: Trouillard
authors.affiliation: INSERM, 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.|Institut de Biologie Paris Seine, Neuroscience Paris Seine, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Paris, France.
authors.forename: Quentin
authors.initials: Q
authors.lastname: Welniarz
authors.affiliation: Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.|School of Life and Health Sciences, Aston University, Birmingham, UK.
authors.forename: Amanda
authors.initials: A
authors.lastname: Wood
authors.affiliation: AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.|INSERM, 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.
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.affiliation: Department of Neurology and Neurosurgery, McGill University Health Center, Montreal, Quebec, Canada.|Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada.
authors.forename: Guy
authors.initials: G
authors.lastname: Rouleau
authors.affiliation: INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris-Descartes University, Sorbonne Paris Cité and Imagine Institute, Paris, France.|AP-HP, Hôpital Necker-Enfants Malades, Département de Génétique, Paris, France.
authors.forename: Tania
authors.initials: T
authors.lastname: Attié-Bitach
authors.affiliation: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.|Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.|Victorian Clinical Genetics Services, Parkville, Victoria, Australia.
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
authors.affiliation: IGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.|Laboratoires de Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Mandel
authors.affiliation: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.|Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
authors.forename: David J
authors.initials: DJ
authors.lastname: Amor
authors.affiliation: INSERM, 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.|AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Neurologie, Paris, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roze
authors.affiliation: IGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.|Laboratoires de Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Amélie
authors.identifier: http://orcid.org/0000-0003-0408-7468
authors.initials: A
authors.lastname: Piton
authors.affiliation: Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.|Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.
authors.forename: Melanie
authors.identifier: http://orcid.org/0000-0001-5132-0774
authors.initials: M
authors.lastname: Bahlo
authors.affiliation: Centre de Référence `Déficiences Intellectuelles de Causes Rares', Paris, France.|AP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France.|UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.|INSERM U1141, Paris, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Billette de Villemeur
authors.affiliation: Department of Neurology, UCSF Benioff Children's Hospital, San Francisco, California, USA.
authors.forename: Elliott H
authors.initials: EH
authors.lastname: Sherr
authors.affiliation: Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.|Neuroscience Research Group, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.|Department of Neurology, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Leventer
authors.affiliation: Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.|University of Queensland, School of Biomedical Sciences, St. Lucia, Brisbane, Australia.
authors.forename: Linda J
authors.initials: LJ
authors.lastname: Richards
authors.affiliation: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.|Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
authors.forename: Paul J
authors.identifier: http://orcid.org/0000-0003-2531-8413
authors.initials: PJ
authors.lastname: Lockhart
authors.affiliation: AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.|IGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.|INSERM, 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.|Laboratoires de Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Christel
authors.identifier: http://orcid.org/0000-0002-7212-9554
authors.initials: C
authors.lastname: Depienne
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D061085:Agenesis of Corpus Callosum / Q000235:genetics*; D001921:Brain / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology; D000075389:DCC Receptor; D002658:Developmental Disabilities / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics; D058953:Neural Stem Cells / Q000473:pathology; D019683:Penetrance; D010641:Phenotype; D011956:Receptors, Cell Surface / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D000075389:DCC Receptor; C501909:DCC protein, human; D011956:Receptors, Cell Surface; D025521:Tumor Suppressor Proteins