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...

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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

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