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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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Description
ISSN:1460-2156
DOI:10.1093/brain/awae160