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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

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Title: De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Authors: Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001., Spicher C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Scheer E; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Buchan JG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA., Cech J; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Folland C; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Frey T; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland., Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada., Keren B; Department of Genetics and Referral Center for Intellectual Disabilities of Rare Causes, AP-HP, Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, 75013, Paris, France., Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands., Otten CE; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Paolucci SA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA., Petit F; CHU Lille, Clinique de génétique Guy Fontaine, F-59000 Lille, France., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK., Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, 8057 Zurich, Switzerland., Ravenscroft G; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Sanchev R; Centre for Clinical Genetics, Sydney Children's Hospitals Network-Randwick, Sydney, NSW 2031, Australia., Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland., Tammer F; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands., Tyndall A; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada., Devys D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Vincent SD; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France., Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001., Tora L; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.
Source: Brain : a journal of neurology [Brain] 2024 Aug 01; Vol. 147 (8), pp. 2732-2744.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
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  Data: <searchLink fieldCode="AU" term="%22Harel+T%22">Harel T</searchLink>; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001.<br /><searchLink fieldCode="AU" term="%22Spicher+C%22">Spicher C</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Scheer+E%22">Scheer E</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Buchan+JG%22">Buchan JG</searchLink>; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA.<br /><searchLink fieldCode="AU" term="%22Cech+J%22">Cech J</searchLink>; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.<br /><searchLink fieldCode="AU" term="%22Folland+C%22">Folland C</searchLink>; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.<br /><searchLink fieldCode="AU" term="%22Frey+T%22">Frey T</searchLink>; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.<br /><searchLink fieldCode="AU" term="%22Holtz+AM%22">Holtz AM</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Department of Genetics and Referral Center for Intellectual Disabilities of Rare Causes, AP-HP, Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, 75013, Paris, France.<br /><searchLink fieldCode="AU" term="%22Macken+WL%22">Macken WL</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Marcelis+C%22">Marcelis C</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Otten+CE%22">Otten CE</searchLink>; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.<br /><searchLink fieldCode="AU" term="%22Paolucci+SA%22">Paolucci SA</searchLink>; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA.<br /><searchLink fieldCode="AU" term="%22Petit+F%22">Petit F</searchLink>; CHU Lille, Clinique de génétique Guy Fontaine, F-59000 Lille, France.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pitceathly+RDS%22">Pitceathly RDS</searchLink>; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Rauch+A%22">Rauch A</searchLink>; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, 8057 Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Ravenscroft+G%22">Ravenscroft G</searchLink>; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.<br /><searchLink fieldCode="AU" term="%22Sanchev+R%22">Sanchev R</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospitals Network-Randwick, Sydney, NSW 2031, Australia.<br /><searchLink fieldCode="AU" term="%22Steindl+K%22">Steindl K</searchLink>; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.<br /><searchLink fieldCode="AU" term="%22Tammer+F%22">Tammer F</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Tyndall+A%22">Tyndall A</searchLink>; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada.<br /><searchLink fieldCode="AU" term="%22Devys+D%22">Devys D</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Vincent+SD%22">Vincent SD</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Elpeleg+O%22">Elpeleg O</searchLink>; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001.<br /><searchLink fieldCode="AU" term="%22Tora+L%22">Tora L</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.
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