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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
Institution:1. Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK;2. Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter EX2 5DW, UK;3. Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA;4. Biodonostia Health Research Institute, 20014 San Sebastián, Spain;5. Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London NW3 2PF, UK;6. Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel;7. Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Wayne State University School of Medicine, Children’s Hospital of Michigan, Detroit, MI 48201, USA;8. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;9. South West Thames Regional Genetics Service, St George’s University Hospitals NHS Foundation Trust, London SW17 0QT, UK;10. St George’s University of London, London SW17 0RE, UK;11. Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8EG, UK;12. Department of Paediatric Cardiology, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8BJ, UK;13. Clinical Genetics Service, NHS Grampian, Aberdeen Royal Infirmary, Aberdeen AB25 2ZA, UK;14. Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK;15. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA;16. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA;17. Texas Children’s Hospital, Houston, TX 77030, USA;18. MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK;19. IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain;20. CIBERNED (Center for Networked Biomedical Research on Neurodegenerative Diseases, Ministry of Economy and Competitiveness, Institute Carlos III), 28031 Madrid, Spain
Abstract:
Keywords:mitochondrial DNA  cholesterol  cardiomyopathy  ATAD3  ATAD3 gene cluster  NAHR  non-allelic homologous recombination  metabolic disorder  Harel-Yoon
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