Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Autor: Marsh AP; 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., Heron D; 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., Edwards TJ; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.; School of Medicine, University of Queensland, Herston, Brisbane, Australia., Quartier A; IGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France., Galea C; Drug Delivery, Disposition and Dynamics (D4), Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia., Nava C; 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., Rastetter A; 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., Moutard ML; AP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France.; UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.; Centre de Référence `Neurogénétique', Paris, France., Anderson V; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Bitoun P; Génétique Médicale, CHU Paris Nord, Hôpital Jean Verdier, Bondy, France., Bunt J; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia., Faudet A; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France., Garel C; AP-HP GHUEP, Hôpital Armand Trousseau, Service de Radiologie, Paris, France., Gillies G; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia., Gobius I; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia., Guegan J; iCONICS Facility, ICM, Paris, France., Heide S; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.; Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France., Keren B; 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., Lesne F; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France., Lukic V; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia., Mandelstam SA; 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., McGillivray G; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., McIlroy A; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Méneret A; 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., Mignot C; 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., Morcom LR; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia., Odent S; 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., Paolino A; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia., Pope K; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia., Riant F; AP-HP, Groupe Hospitalier Saint-Louis -La Riboisière -Fernand Vidal, Laboratoire de Génétique, Paris, France., Robinson GA; Neuropsychology Research Unit, School of Psychology, University of Queensland, Brisbane, Australia., Spencer-Smith M; 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., Srour M; Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.; Department of Neurology and Neurosurgery, McGill University Health Center, Montreal, Quebec, Canada., Stephenson SE; 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., Tankard R; 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., Trouillard O; 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., Welniarz Q; 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., Wood A; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.; School of Life and Health Sciences, Aston University, Birmingham, UK., Brice A; 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., Rouleau G; Department of Neurology and Neurosurgery, McGill University Health Center, Montreal, Quebec, Canada.; Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada., Attié-Bitach T; 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., Delatycki MB; 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., Mandel JL; 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., Amor DJ; 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., Roze E; 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., Piton A; 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., Bahlo M; 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., Billette de Villemeur T; 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., Sherr EH; Department of Neurology, UCSF Benioff Children's Hospital, San Francisco, California, USA., Leventer RJ; 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., Richards LJ; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.; University of Queensland, School of Biomedical Sciences, St. Lucia, Brisbane, Australia., Lockhart PJ; 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., Depienne C; 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.
Jazyk: angličtina
Zdroj: Nature genetics [Nat Genet] 2017 Apr; Vol. 49 (4), pp. 511-514. Date of Electronic Publication: 2017 Feb 27.
DOI: 10.1038/ng.3794
Abstrakt: 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.
Databáze: MEDLINE