PDF(Pubmed)
Abstract：
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 and epileptic encephalopathy (DEE). We report on the case of a patient who presented with language and motor retardation, epilepsy, and electroencephalogram abnormalities. Upon conducting whole-exome sequencing, we discovered a novel 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 findings strongly suggest that this novel variant of NUS1 is responsible for the development of neurological disorders, including epilepsy. It is believed that the truncation of Nogo-B receptor results in the loss of cis-prenyltransferase activity, which may be the underlying cause of the disease.
摘要：
NUS1负责编码Nogo-B受体（NgBR），它是顺式-异戊二烯基转移酶的一个亚基。据报道，NUS1中有超过25种变体，这些变异与各种表型有关,如先天性糖基化障碍（CDG）和发育性和癫痫性脑病（DEE）。我们报告了一例语言和运动迟缓的患者，癫痫,和脑电图异常。在进行全外显子组测序时，我们在NUS1中发现了一种新的致病变异(chr6:118024873,NM_138459.5:c.791+6T>G),该变异导致外显子4被跳过,导致56个氨基酸的损失。我们的发现强烈表明，NUS1的这种新型变体是神经系统疾病发展的原因。包括癫痫。据认为，Nogo-B受体的截短导致顺式-异戊二烯基转移酶活性的丧失，这可能是疾病的根本原因。
