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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
Authors:Elizabeth E. Palmer  Seungbeom Hong  Fatema Al Zahrani  Mais O. Hashem  Fajr A. Aleisa  Heba M. Jalal Ahmed  Tejaswi Kandula  Rebecca Macintosh  Andre E. Minoche  Clare Puttick  Velimir Gayevskiy  Alexander P. Drew  Mark J. Cowley  Marcel Dinger  Jill A. Rosenfeld  Rui Xiao  Megan T. Cho  Suliat F. Yakubu  Stefan T. Arold
Affiliation:1. Sydney Children’s Hospital, Randwick, NSW 2031, Australia;2. School of Women’s and Children’s Health, University of New South Wales, Randwick, NSW 2031, Australia;3. The Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia;4. Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia;5. King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia;6. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia;7. St. Vincent’s Clinical School, University of New South Wales, Darlinghurst, NSW 2010, Australia;8. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA;9. Baylor Genetics, Houston, Texas 77021, USA;10. GeneDx, Gaithersburg, Maryland 20877, USA;11. King Khalid University Hospital, King Saud University, Riyadh 11472, Saudi Arabia;12. Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA;13. Division of Genetics, Department of Pediatrics, University of California, San Diego and Rady Children’s Hospital, San Diego, California 92123, USA;14. Division of Genetics and Metabolism, Phoenix Children’s Hospital, Phoenix, Arizona 85016, USA;15. Division of Pediatric Neurosurgery, Phoenix Children''s Hospital, Phoenix, AZ 85016, USA;16. University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA;17. Department of Neurology, Children’s Health, Dallas, Texas 75235, USA;18. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia, Montañeses, Buenos Aires 2325, Argentina;19. Inserm U1231, Lipides, Nutrition, Cancer UMR 1231 Génétique des Anomalies du Développement, Burgundy University, Dijon 21079, France;20. Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon 21079, France;21. New South Wales Health Pathology Genomic Laboratory, Prince of Wales Hospital, Randwick 2031, Australia;22. Neuroscience Research Australia, University of New South Wales 2031, Australia;23. King Abdullah University of Science and Technology, Division of Biological and Environmental Sciences and Engineering, Thuwal 23955-6900, Saudi Arabia;24. Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia
Abstract:
Keywords:allelic disorders  HX repeat  intellectual disability  developmental delay  dysmorphic
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