Article
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype.
Neurogenetics - 1 Jan 2022
Chen Hongzhu, Li Niu, Xu Yufei, Li Guoqiang, Song Cui, Yao Ru-En, Yu Tingting, Wang Jian, Yang Lin
Abstract excerpt
The target of EGR1 protein 1 (TOE1) is a 3-exonuclease belonging to the Asp-Glu-Asp-Asp deadenylase family that plays a vital role in the maturation of a variety of small nuclear RNAs (snRNAs). Bi-allelic variants in TOE1 have been reported to cause a rare and severe neurodegenerative syndrome, pontocerebellar hypoplasia type 7 (PCH7) (OMIM # 614,969), which is characterized by progressive neurodegeneration,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.