AUTHOR=Hu Yan , Huang Mingwei , Wen Jialun , Gao Jian , Long Weiwei , Shen Yansheng , Zeng Qi , Chen Yan , Zhang Tian , Liao Jianxiang , Liu Qiuli , Li Nannan , Lin Sufang 

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

JOURNAL=Frontiers in Genetics

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1224949

DOI=10.3389/fgene.2023.1224949

ISSN=1664-8021

ABSTRACT=NUS1 is responsible for encoding Nogo-B receptor (NgBR), which is a subunit of cis-prenyltransferase. Over 25 variants in NUS1 have been reported, and these variants have been associated with various phenotypes such as congenital glycosylation disorders (CDG) and developmental and epileptic encephalopathy (DEE).Our patient presented with language and motor retardation, epilepsy, and electroencephalogram abnormalities. Upon conducting whole exome sequencing, we discovered a novel and pathogenic variant (chr6:118024873, NM_138459.5: c.791+6T>G) in NUS1, which was shown to cause exon 4 to be skipped, resulting in a loss of 56 amino acids. Our study strongly suggests that this novel variant of NUS1 is responsible for the development of neurological disorders, including epilepsy. It is believed that the truncation of NgBR results in the loss of cis-prenyltransferase activity, which may be the underlying cause of the disease.