The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report

• Main Authors: Triono, Agung, Iskandar, Kristy, Nugrahanto, Andika Priamas, Hadiyanto, Marissa Leviani, Gunadi, Gunadi, Herini, Elisabeth Siti
• Format: Article PeerReviewed
• Language: English
• Published: Elsevier Ltd 2022
• Subjects: Paediatrics
• Online Access: https://repository.ugm.ac.id/283341/1/43.pdf; https://repository.ugm.ac.id/283341/; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85121205163&doi=10.1016%2fj.amsu.2021.103170&partnerID=40&md5=ef6b3979249698515c40553d62cfd9ec
• Institution: Universitas Gadjah Mada

Introduction: Angelman Syndrome (AS) is a rare disorder with a relatively well-defined phenotype caused by lack of expression of the maternally inherited ubiquitin-protein ligase E3A (UBE3A) gene in the brain. This article describes the role of genetic testing using whole-exome sequencing (WES) in d...