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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
Institution: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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