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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Marsh, Ashley P L; Heron, Delphine; Edwards, Timothy J; Quartier, Angélique; Galea, Charles; Nava, Caroline; Rastetter, Agnès; Moutard, Marie-Laure; Anderson, Vicki; Bitoun, Pierre; Bunt, Jens; Faudet, Anne; Garel, Catherine; Gillies, Greta; Gobius, Ilan; Guegan, Justine; Heide, Solveig; Keren, Boris; Lesne, Fabien; Lukic, Vesna; Mandelstam, Simone A; McGillivray, George; McIlroy, Alissandra; Méneret, Aurélie; Mignot, Cyril; Morcom, Laura R; Odent, Sylvie; Paolino, Annalisa; Pope, Kate; Riant, Florence; Robinson, Gail A; Spencer-Smith, Megan; Srour, Myriam; Stephenson, Sarah E M; Tankard, Rick; Trouillard, Oriane; Welniarz, Quentin; Wood, Amanda; Brice, Alexis; Rouleau, Guy; Attié-Bitach, Tania; Delatycki, Martin B; Mandel, Jean-Louis; Amor, David J; Roze, Emmanuel; Piton, Amélie; Bahlo, Melanie; Billette de Villemeur, Thierry; Sherr, Elliott H; Leventer, Richard J.
Affiliation
  • Marsh AP; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Heron D; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Edwards TJ; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Quartier A; Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France.
  • Galea C; Centre de Référence `Déficiences Intellectuelles de Causes Rares', Paris, France.
  • Nava C; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
  • Rastetter A; School of Medicine, University of Queensland, Herston, Brisbane, Australia.
  • Moutard ML; IGBMC, Université de Strasbourg, CNRS, INSERM, UMR7104 U964, Strasbourg, France.
  • Anderson V; Drug Delivery, Disposition and Dynamics (D4), Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.
  • Bitoun P; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Bunt J; 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.
  • Faudet 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.
  • Garel C; AP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France.
  • Gillies G; UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.
  • Gobius I; Centre de Référence `Neurogénétique', Paris, France.
  • Guegan J; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Heide S; Génétique Médicale, CHU Paris Nord, Hôpital Jean Verdier, Bondy, France.
  • Keren B; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
  • Lesne F; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Lukic V; AP-HP GHUEP, Hôpital Armand Trousseau, Service de Radiologie, Paris, France.
  • Mandelstam SA; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
  • McGillivray G; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
  • McIlroy A; iCONICS Facility, ICM, Paris, France.
  • Méneret A; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Mignot C; Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France.
  • Morcom LR; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Odent S; 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.
  • Paolino A; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Pope K; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
  • Riant F; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Robinson GA; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.
  • Spencer-Smith M; Department of Radiology, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Srour M; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Stephenson SE; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Tankard R; 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.
  • Trouillard O; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Neurologie, Paris, France.
  • Welniarz Q; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
  • Wood A; Groupe de Recherche Clinique (GRC) `Déficience Intellectuelle et Autisme' UPMC, Paris, France.
  • Brice A; Centre de Référence `Déficiences Intellectuelles de Causes Rares', Paris, France.
  • Rouleau G; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
  • Attié-Bitach T; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, CHU Rennes, Rennes, France.
  • Delatycki MB; UMR 6290 CNRS, IGDR Institut de Génétique et Développement de Rennes, Université de Rennes 1, Rennes, France.
  • Mandel JL; Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
  • Amor DJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Roze E; AP-HP, Groupe Hospitalier Saint-Louis -La Riboisière -Fernand Vidal, Laboratoire de Génétique, Paris, France.
  • Piton A; Neuropsychology Research Unit, School of Psychology, University of Queensland, Brisbane, Australia.
  • Bahlo M; Developmental Imaging and Child Neuropsychology Research Groups, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
  • Billette de Villemeur T; School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Clayton, Victoria, Australia.
  • Sherr EH; Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.
  • Leventer RJ; Department of Neurology and Neurosurgery, McGill University Health Center, Montreal, Quebec, Canada.
Nat Genet ; 49(4): 511-514, 2017 Apr.
Article in En | MEDLINE | ID: mdl-28250454
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Receptors, Cell Surface / Tumor Suppressor Proteins / Agenesis of Corpus Callosum / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Nat Genet Year: 2017 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Receptors, Cell Surface / Tumor Suppressor Proteins / Agenesis of Corpus Callosum / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Nat Genet Year: 2017 Document type: Article