Article
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2023
Faqeih Eissa A, Alghamdi Malak Ali, Almahroos Marwa A, Alharby Essa, Almuntashri Makki, Alshangiti Amnah M, Clément Prouteau, Calame Daniel G, Qebibo Leila, Burglen Lydie, Doco-Fenzy Martine, Mastrangelo Mario, Torella Annalaura, Manti Filippo, Nigro Vincenzo, Alban Ziegler, Alharbi Ghadeer Saleh, Hashmi Jamil Amjad, Alraddadi Rawya, Alamri Razan, Mitani Tadahiro, Magalie Barth, Coban-Akdemir Zeynep, Geckinli Bilgen Bilge, Pehlivan Davut, Romito Antonio, Karageorgou Vasiliki, Martini Javier, Colin Estelle, Bonneau Dominique, Bertoli-Avella Aida, Lupski James R, Pastore Annalisa, Peake Roy W A, Dallol Ashraf, Alfadhel Majid, Almontashiri Naif A M
Abstract excerpt
PURPOSE: Pathogenic variants in genes encoding ubiquitin E3 ligases are known to cause neurodevelopmental syndromes. Additional neurodevelopmental disorders associated with the other genes encoding E3 ligases are yet to be identified. METHODS: Chromosomal analysis and exome sequencing were used to identify the genetic causes in 10 patients from 7 unrelated families with syndromic neurodevelopmental, seizure, and...
Topics
Join the communities discussing this publication.