MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
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| Title: | MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. |
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| Authors: | Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France., Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France., Morrow MM; GeneDx, Gaithersburg, 20877 MD, USA., Schramm C; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France., Zamora FM; GeneDx, Gaithersburg, 20877 MD, USA., Shanmugham A; GeneDx, Gaithersburg, 20877 MD, USA., Liu S; GeneDx, Gaithersburg, 20877 MD, USA., Zou F; GeneDx, Gaithersburg, 20877 MD, USA., Bilan F; Service de Génétique, Centre Hospitalier Universitaire de Poitiers, BP577, 86021, Poitiers, France., Le Guyader G; Service de Génétique, Centre Hospitalier Universitaire de Poitiers, BP577, 86021, Poitiers, France., Bruel AL; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Denommé-Pichon AS; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Faivre L; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Inter-Région est, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Tran Mau-Them F; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Tessarech M; Service de Génétique Médicale, CHU d'Angers, Angers, France., Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, ICAT, 49000, Angers, SFR, France., El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France., Gérard B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France., Schaefer E; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France., Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France., Nizon M; Service de Génétique Médicale, CHU Nantes, Nantes, France., Doummar D; Hôpital Trousseau, APHP.Sorbonne Université, Service de Neuropédiatrie, Paris, France., Valence S; Hôpital Trousseau, APHP.Sorbonne Université, Service de Neuropédiatrie, Paris, France., Héron D; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP.Sorbonne Université, Paris, France., Keren B; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP.Sorbonne Université, Paris, France., Mignot C; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP.Sorbonne Université, Paris, France., Coutton C; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, UMR 5309, CNRS, Université Grenoble Alpes, Inserm U1209, Grenoble, France., Devillard F; Service de Génétique et Procréation, CHU Grenoble Alpes, Grenoble, France., Alaix AS; Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France., Amiel J; Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France., Colleaux L; Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France., Munnich A; Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France., Poirier K; Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France., Rio M; Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France., Rondeau S; Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France., Barcia G; Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France., Callewaert B; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium., Dheedene A; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium., Kumps C; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium., Vergult S; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium., Menten B; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium., Chung WK; Columbia University Irving Medical Center, New York, NY, USA., Hernan R; Columbia University Irving Medical Center, New York, NY, USA., Larson A; School of Medicine and Children's Hospital, University of Colorado, Aurora, CO, USA., Nori K; School of Medicine and Children's Hospital, University of Colorado, Aurora, CO, USA., Stewart S; School of Medicine and Children's Hospital, University of Colorado, Aurora, CO, USA., Wheless J; Division of Pediatric Neurology, University of Tennessee, Health Science Center, Memphis, USA., Kresge C; Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, USA., Pletcher BA; Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, USA., Caumes R; Université de Lille, CHU de Lille, Clinique de Génétique « Guy Fontaine », EA7364 RADEMEF-59000, Lille, France., Smol T; Université de Lille, CHU de Lille, Institut de Génétique Médicale, EA7364 RADEMEF-59000, Lille, France., Sigaudy S; Département de Génétique Médicale, Hôpital Timone Enfant, Marseille, France., Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier, France., Helm M; Department of Pediatrics, Division of Genetics. Portland, Maine Medical Center, Maine, USA., Smith R; Department of Pediatrics, Division of Genetics. Portland, Maine Medical Center, Maine, USA., Morrison J; Arnold Palmer Hospital, Orlando Health, Orlando, FL, USA., Wheeler PG; Arnold Palmer Hospital, Orlando Health, Orlando, FL, USA., Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA., Jouret G; National Center of Genetics (NCG), Laboratoire National de Santé (LNS), L-3555, Dudelange, Luxembourg., Afenjar A; Centre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, APHP. Sorbonne Université, Hôpital Trousseau, 75012, Paris, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, 91057, Evry, France., Olaso R; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, 91057, Evry, France., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, 91057, Evry, France., Poitou C; Service de Nutrition, Hôpital de la Pitié Salpêtrière - AP-HP, Paris, France., Frebourg T; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France., Houdayer C; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France. francois.lecoquierre@chu-rouen.fr. |
| Source: | Human genetics [Hum Genet] 2022 Jan; Vol. 141 (1), pp. 65-80. Date of Electronic Publication: 2021 Nov 08. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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