%0 Case Reports
%T TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study.
%A Shatokhina O
%A Kovalskaia V
%A Sparber P
%A Sharkova I
%A Mishina I
%A Kuznetsova V
%A Ryzhkova O
%J Int J Mol Sci
%V 24
%N 21
%D 2023 Oct 25
%M 37958557
%F 6.208
%R 10.3390/ijms242115572
%X 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.