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

ConclusionThe 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.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1481?af=R

Source: Molecular Genetics & Genomic Medicine - September 4, 2020 Category: Genetics & Stem Cells Authors: Amber Geerts ‐Haages, Stijn N. V. Bossuyt, Inge Besten, Hennie Bruggenwirth, Ineke Burgt, Helger G. Yntema, A. Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel, Marlies Valstar Tags: ORIGINAL ARTICLE Source Type: research