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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Jeanne, Médéric; Demory, Hélène; Moutal, Aubin; Vuillaume, Marie-Laure; Blesson, Sophie; Thépault, Rose-Anne; Marouillat, Sylviane; Halewa, Judith; Maas, Saskia M; Motazacker, M Mahdi; Mancini, Grazia M S; van Slegtenhorst, Marjon A; Andreou, Avgi; Cox, Helene; Vogt, Julie; Laufman, Jason; Kostandyan, Natella; Babikyan, Davit; Hancarova, Miroslava; Bendova, Sarka; Sedlacek, Zdenek; Aldinger, Kimberly A; Sherr, Elliott H; Argilli, Emanuela; England, Eleina M; Audebert-Bellanger, Séverine; Bonneau, Dominique; Colin, Estelle; Denommé-Pichon, Anne-Sophie; Gilbert-Dussardier, Brigitte; Isidor, Bertrand; Küry, Sébastien; Odent, Sylvie; Redon, Richard; Khanna, Rajesh; Dobyns, William B; Bézieau, Stéphane; Honnorat, Jérôme; Lohkamp, Bernhard; Toutain, Annick; Laumonnier, Frédéric.
Afiliação
  • Jeanne M; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France; Service de Génétique, Centre Hospitalier Universitaire, 37044 Tours, France.
  • Demory H; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.
  • Moutal A; Department of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ 85724, USA.
  • Vuillaume ML; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France; Service de Génétique, Centre Hospitalier Universitaire, 37044 Tours, France.
  • Blesson S; Service de Génétique, Centre Hospitalier Universitaire, 37044 Tours, France.
  • Thépault RA; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.
  • Marouillat S; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.
  • Halewa J; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.
  • Maas SM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • Motazacker MM; Department of Clinical Genetics, Laboratory of Genome Diagnostics, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.
  • Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, 30125 CN Rotterdam, the Netherlands.
  • van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, 30125 CN Rotterdam, the Netherlands.
  • Andreou A; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham BT15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham BT15 2TG, UK.
  • Cox H; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham BT15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham BT15 2TG, UK.
  • Vogt J; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham BT15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham BT15 2TG, UK.
  • Laufman J; Department of Clinical Genetics, Akron Children's Hospital, Akron, OH 44308-1062, USA.
  • Kostandyan N; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, and Center of Medical Genetics and Primary Health Care, Yerevan 0001, Armenia.
  • Babikyan D; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, and Center of Medical Genetics and Primary Health Care, Yerevan 0001, Armenia.
  • Hancarova M; Department of Biology and Medical Genetics, Charles University 2(nd) Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.
  • Bendova S; Department of Biology and Medical Genetics, Charles University 2(nd) Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.
  • Sedlacek Z; Department of Biology and Medical Genetics, Charles University 2(nd) Faculty of Medicine and University Hospital Motol, Charles University, Prague 15006, Czech Republic.
  • Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Sherr EH; Departments of Neurology and Pediatrics, Weill Institute of Neuroscience and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Argilli E; Departments of Neurology and Pediatrics, Weill Institute of Neuroscience and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA 94158, USA.
  • England EM; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Audebert-Bellanger S; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Régional Universitaire, 29200 Brest, France.
  • Bonneau D; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, University of Angers, 49933 Angers, France.
  • Colin E; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, University of Angers, 49933 Angers, France.
  • Denommé-Pichon AS; Centre Hospitalier Universitaire de Dijon, UMR Inserm 1231, Team Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France.
  • Gilbert-Dussardier B; Service de Génétique, Centre Hospitalier Universitaire, 86021 Poitiers, France; Equipe d'Accueil 3808, Université de Poitiers, 86034 Poitiers, France.
  • Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
  • Küry S; Service de Génétique Médicale, Centre Hospitalier Universitaire, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
  • Odent S; Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de Causes Rares, Centre de Référence Anomalies du Développement, Centre Labellisé pour les Anomalies du Développement Ouest, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; Institut de Génétique et Développ
  • Redon R; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
  • Khanna R; Department of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ 85724, USA.
  • Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98015, USA.
  • Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
  • Honnorat J; French Reference Center on Autoimmune Encephalitis, Hospices Civils de Lyon, Institut NeuroMyoGene, Inserm U1217/CNRS UMR 5310, Université de Lyon, Université Claude Bernard Lyon 1, 69008 Lyon, France.
  • Lohkamp B; Division of Molecular Structural Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.
  • Toutain A; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France; Service de Génétique, Centre Hospitalier Universitaire, 37044 Tours, France.
  • Laumonnier F; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France; Service de Génétique, Centre Hospitalier Universitaire, 37044 Tours, France. Electronic address: frederic.laumonnier@inserm.fr.
Am J Hum Genet ; 108(5): 951-961, 2021 05 06.
Article em En | MEDLINE | ID: mdl-33894126
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cerebelo / Mutação de Sentido Incorreto / Agenesia do Corpo Caloso / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cerebelo / Mutação de Sentido Incorreto / Agenesia do Corpo Caloso / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França