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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

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第一作者： Ilaria,Parenti

第一单位： Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.

作者： Ilaria,Parenti ^[1] ; Daphné,Lehalle ^[2] ; Caroline,Nava ^[3] ; Erin,Torti ^[4] ; Elsa,Leitão ^[1] ; Richard,Person ^[4] ; Takeshi,Mizuguchi ^[5] ; Naomichi,Matsumoto ^[5] ; Mitsuhiro,Kato ^[6] ; Kazuyuki,Nakamura ^[7] ; Stella A,de Man ^[8] ; Heidi,Cope ^[9] ; Vandana,Shashi ^[9] ; Undiagnosed Diseases Network ^[10] ; Jennifer,Friedman ^[11] ; Pascal,Joset ^[11] ; Katharina,Steindl ^[11] ; Anita,Rauch ^[12] ; Irena,Muffels ^[12] ; Peter M,van Hasselt ^[13] ; Florence,Petit ^[14] ; Thomas,Smol ^[15] ; Gwenaël,Le Guyader ^[15] ; Frédéric,Bilan ^[16] ; Arthur,Sorlin ^[17] ; Antonio,Vitobello ^[17] ; Christophe,Philippe ^[18] ; Ingrid M B H,van de Laar ^[18] ; Marjon A,van Slegtenhorst ^[19] ; Philippe M,Campeau ^[20] ; Ping Yee Billie,Au ^[21] ; Mitsuko,Nakashima ^[21] ; Hirotomo,Saitsu ^[22] ; Tatsuya,Yamamoto ^[23] ; Yumiko,Nomura ^[24] ; Raymond J,Louie ^[24] ; Michael J,Lyons ^[24] ; Amy,Dobson ^[25] ; Astrid S,Plomp ^[26] ; M Mahdi,Motazacker ^[1] ; Frank J,Kaiser ^[27] ; Andrew T,Timberlake ^[12] ; Sabine A,Fuchs ^[28] ; Christel,Depienne ^[29] ; Cyril,Mignot

作者单位： Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. ^[1] Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, APHP, Sorbonne Université, Paris, France. ^[2] Institut du Cerveau (ICM), UMR S 1127, Inserm U1127, CNRS UMR 7225, Sorbonne Université, 75013, Paris, France. ^[3] GeneDx, Gaithersburg, MD, USA. ^[4] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. ^[5] Department of Pediatrics, Showa University School of Medicine, Tokyo, 142-8666, Japan. ^[6] Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, 990-9585, Japan. ^[7] Department of Pediatrics, Amphia Hospital, Breda, The Netherlands. ^[8] Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA. ^[9] Departments of Neuroscience and Pediatrics, Division of Neurology, Rady Children's Hospital, UCSD, San Diego and Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. ^[10] Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland.;Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich, 8032, Zurich, Switzerland. ^[11] Department of Metabolic Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands. ^[12] Clinique de Génétique, CHU Lille, 59000, Lille, France. ^[13] Institut de Génétique Médicale, CHRU Lille, Université de Lille, Lille, France. ^[14] Service de Génétique Médicale, CHU de Poitiers, Poitiers, France.;EA3808 NEUVACOD, University of Poitiers, Poitiers, France. ^[15] Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.;INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement », FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.;Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France. ^[16] Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.;INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement », FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France. ^[17] Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. ^[18] CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.;Sainte-Justine Hospital, University of Montreal, Montreal, QC, H3T 1C5, Canada. ^[19] Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada. ^[20] Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan. ^[21] Department of Pediatrics, Hirosaki University Graduate School of Medicine and School of Medicine, Hirosaki, 036-8562, Japan. ^[22] Department of Pediatrics, Hirosaki National Hospital, Hirosaki, 036-8545, Japan.;Aomori City Health Center, Aomori, 030-0962, Japan. ^[23] Greenwood Genetic Center, Greenwood, SC, 29646, USA. ^[24] Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. ^[25] Laboratory of Genome Diagnostics, Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. ^[26] Hansjörg Wyss Department of Plastic Surgery, NYU Langone Health, New York, NY, USA. ^[27] Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. christel.depienne@uni-due.de.;Institut du Cerveau (ICM), UMR S 1127, Inserm U1127, CNRS UMR 7225, Sorbonne Université, 75013, Paris, France. christel.depienne@uni-due.de. ^[28] Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, APHP, Sorbonne Université, Paris, France. cyril.mignot@aphp.fr.;Institut du Cerveau (ICM), UMR S 1127, Inserm U1127, CNRS UMR 7225, Sorbonne Université, 75013, Paris, France. cyril.mignot@aphp.fr. ^[29]