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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability,speech delay,and dysmorphism
Authors:Maya Chopra  Meriel McEntagart  Jill Clayton-Smith  Konrad Platzer  Anju Shukla  Katta M Girisha  Anupriya Kaur  Parneet Kaur  Rolph Pfundt  Hermine Veenstra-Knol  Grazia MS Mancini  Gerarda Cappuccio  Nicola Brunetti-Pierri  Fanny Kortüm  Maja Hempel  Jonas Denecke  Anna Lehman  Christopher T Gordon
Institution:3. Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children’s Hospital, Boston, MA 02115, USA;4. Department of Medical Genetics, St George’s University Hospitals NHS FT, London SW17 ORE, UK;5. Manchester Centre for Genomic Medicine, University of Manchester, St Mary’s Hospital, Manchester M13 9WL, UK;6. Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9WL, UK;7. Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04129, Germany;8. Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India;9. Genetics Metabolic Unit, Department of Pediatrics, PGIMER, Chandigarh 160012, India;10. Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands;11. Department of Genetics University of Groningen, University Medical Centre Groningen, Groningen CB50, the Netherlands;12. Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands;13. Department of Translational Medicine, Section of Pediatrics, Federico II University of Naples, Naples 80131, Italy;14. Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy;15. Institute of Human Genetics and Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany;16. Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada;17. HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA;18. University of Alabama at Birmingham, Department of Neurology and Pediatrics, Birmingham, AL 35294, USA;19. Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands;20. Department of Neurology, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands;21. Division of Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94158, USA;22. Department of Neurology, University of California, San Francisco, San Francisco, CA 94110, USA;23. Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA;24. Department of Pediatrics, Zuckerberg San Francisco General, San Francisco, UCSF, San Francisco, CA 94143, USA;25. Department of Human Genetic, Emory University, Atlanta, GA 30322, USA;26. Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA;27. Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA;28. Division of Medical Genetics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA;29. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;30. The Epilepsy NeuroGenetics Initiative (ENGIN), Children’s Hospital of Philadelphia, Philadelphia, PA 19014, USA;31. Department of Biomedical and Health Informatics (DBHi), Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;32. Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104, USA;33. St. George’s Genomics Service, St George’s University Hospitals NHS FT, London SW17 ORE, UK;34. Genomics England, London EC1M 6BQ, UK;35. William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK;38. Department of Pediatric Neurology. Hospital Universitario Quirónsalud, Madrid and Universidad Complutense, Madrid 28224, Spain;39. Genologica Center, Málaga 29016, Spain;40. Institute of Human Genetics, University Hospital Magdeburg, Magdeburg 39120, Germany;41. Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig 04129, Germany;42. Department of Medical Genetics and Albert Children’s Hospital Research Institute, Cumming School of Medicine, Calgary, AB T3B 6A8, Canada;43. Blueprint Genetics, Keilaranta 16 A-B, 02150 Espoo, Finland;44. WE Genomic Medicine Centre, University Hospitals Bristol NHS Foundation Trust, Bristol B52 8EG, UK;45. Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol BS10 5NB, UK;46. William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK;47. Oxford Centre for Genomic Medicine, Oxford and Spires Cleft Centre, Oxford OX3 9DU, UK;48. Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia;49. Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia;50. Broad Institute - Center for Mendelian Genomics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA;51. NSW Genetics of Learning Disability Service, Waratah, NSW 2298, Australia;52. Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France;53. Département de génétique, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France;54. Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo 24127, Italy;55. Pediatric Department, ASST Papa Giovanni XXIII, Bergamo 24127, Italy;56. Genetic Health Service, New Zealand, Central Hub Wellington Hospital, Wellington 6242, New Zealand;57. Department of Paediatrics, Necker-Enfants Malades University Hospital, AP-HP, Centre de référence du syndrome de Pierre Robin et troubles de succion-déglutition congénitaux (SPRATON), Paris 75015, France;58. Department of Women’s and Children’s Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand
Abstract:
Keywords:ANKRD17  ankyrin repeats  intellectual disability  neurodevelopmental syndrome  speech delay  dysmorphism  Hippo pathway  Yorkie  Mask
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