PDF(Pubmed)
Abstract：
In this study, we report a novel splice variant in the TRA2B gene identified in a patient presenting with seizures and neurodevelopmental delay. This paper represents the second investigation of pathogenic variants in the TRA2B gene in humans, reaffirming the conclusions of the initial study and underscoring the importance of this research. Comprehensive genetic testing, including whole genome sequencing, Sanger sequencing, and mRNA analysis, was performed on the proband and her parents. The proband harbored a de novo c.170+1G>A variant in the RS1 domain of Tra2β, which was confirmed to be pathogenic through mRNA analysis, resulting in exon 2 deletion and a frameshift (p.Glu13Valfs*2). The clinical presentation of the patient was consistent with phenotypes described in one of the previous studies. These findings contribute to the dissemination and reinforcement of prior discoveries in the context of TRA2B-related syndrome and highlight the need for further investigation into the functional consequences and underlying pathogenic mechanisms associated with TRA2B mutations.
摘要：
在这项研究中,我们报道了在一名出现癫痫发作和神经发育迟缓的患者中发现的TRA2B基因中的一个新剪接变体.本文代表了人类TRA2B基因致病变异的第二次调查，重申初步研究的结论，并强调本研究的重要性。全面的基因检测,包括全基因组测序，桑格测序,和mRNA分析，是对先证者和她的父母进行的。先证者在Tra2β的RS1结构域中具有从头c.1701G>A变体，通过mRNA分析证实是致病性的，导致外显子2缺失和移码(p.Glu13Valfs*2)。患者的临床表现与先前研究之一中描述的表型一致。这些发现有助于在TRA2B相关综合征的背景下传播和加强先前的发现，并强调需要进一步研究与TRA2B突变相关的功能后果和潜在的致病机制。
