Article
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
Clinical genetics - 1 Jul 2023
Mo Alisa, Paz-Ebstein Emuna, Yanovsky-Dagan Shira, Lai Abbe, Mor-Shaked Hagar, Gilboa Tal, Yang Edward, Shao Diane D, Walsh Christopher A, Harel Tamar
Abstract excerpt
NUSAP1 encodes a cell cycle-dependent protein with key roles in mitotic progression, spindle formation, and microtubule stability. Both over- and under-expression of NUSAP1 lead to dysregulation of mitosis and impaired cell proliferation. Through exome sequencing and Matchmaker Exchange, we identified two unrelated individuals with the same recurrent, de novo heterozygous variant (NM_016359.5 c.1209C > A;...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.