Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy

Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy

NUS1 is responsible for encoding of the Nogo-B receptor (NgBR), which is a subunit of cis-prenyltransferase. Over 25 variants in NUS1 have been reported, and these variants have been found to be associated with various phenotypes, such as congenital disorders of glycosylation (CDG) and developmental...

Full description

Bibliographic Details
Main Authors: Yan Hu, Mingwei Huang, Jialun Wen, Jian Gao, Weiwei Long, Yansheng Shen, Qi Zeng, Yan Chen, Tian Zhang, Jianxiang Liao, Qiuli Liu, Nannan Li, Sufang Lin
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Genetics
Subjects:
NUS1
trio-WES
aberrant splicing
epilepsy
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1224949/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1224949/full

Similar Items