Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome

Genetics in Medicine - Tập 25 - Trang 100323 - 2023
Eissa A. Faqeih1, Malak Ali Alghamdi2,3, Marwa A. Almahroos1, Essa Alharby4, Makki Almuntashri5,6, Amnah M. Alshangiti4, Prouteau Clément7, Daniel G. Calame8,9, Leila Qebibo10, Lydie Burglen10,11, Martine Doco-Fenzy12, Mario Mastrangelo13, Annalaura Torella14,15, Filippo Manti13, Vincenzo Nigro14,15, Ziegler Alban7, Ghadeer Saleh Alharbi4, Jamil Amjad Hashmi4, Rawya Alraddadi4, Razan Alamri4
1Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
2Medical Genetics Division, College of Medicine, King Saud University, Riyadh, Saudi Arabia
3Medical Genetic Division, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia
4Center for Genetics and Inherited Diseases Taibah University Almadinah Almunwarah Saudi Arabia
5Department of Radiology, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia
6King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
7Department of Medical Genetics and Mitovasc INSERM 1083, CNRS 6015, Angers University Hospital, Angers, France
8Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX
9Texas Children’s Hospital, Houston, TX
10Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, 75012, Paris, France
11Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR, 1163, F-75015, Paris, France
12CHU Reims, SFR CAP Sante, EA3801, Reims, France and CHU de Nantes, service de génétique médicale, Nantes, France
13Child Neurology and Psychiatry Unit, Department of Human Neuroscience, Sapienza-University of Rome, Rome, Italy
14Department of Precision Medicine, Università della Campania “Luigi Vanvitelli” ,Naples, Italy
15Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy

Tài liệu tham khảo

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