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.
Amber Geerts-HaagesStijn N V BossuytInge den BestenHennie BruggenwirthIneke van der BurgtHelger G YntemaA Mattijs PuntAlice BrooksYpe ElgersmaBen DistelMarlies ValstarPublished in: Molecular genetics & genomic medicine (2020)
The p.(Asn340del) mutant protein behaves distinctly different from previously described AS-linked missense mutations in UBE3A, and causes a phenotype that is markedly different from AS. This study further extends the range of phenotypes that are associated with UBE3A loss, duplication, or mutation.