Article
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Molecular genetics & genomic medicine - 1 Nov 2020
Geerts-Haages Amber, Bossuyt Stijn N V, den Besten Inge, Bruggenwirth Hennie, van der Burgt Ineke, Yntema Helger G, Punt A Mattijs, Brooks Alice, Elgersma Ype, Distel Ben, Valstar Marlies
Abstract excerpt
BACKGROUND: Loss of functional UBE3A, an E3 protein ubiquitin ligase, causes Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, speech impairment, epilepsy, movement or balance disorder, and a characteristic behavioral pattern. We identified a novel UBE3A sequence variant in a large family with eight affected individuals, who did not meet the clinical AS criteria....
Topics
- Adult
- Angelman Syndrome
- Animals
- Developmental Disabilities
- Diagnosis, Differential
- Enzyme Stability
- Female
- Gene Deletion
- HEK293 Cells