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TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study

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 und...

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Autores principales: Shatokhina, Olga, Kovalskaia, Valeriia, Sparber, Peter, Sharkova, Inna, Mishina, Irina, Kuznetsova, Vera, Ryzhkova, Oxana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10648248/
https://www.ncbi.nlm.nih.gov/pubmed/37958557
http://dx.doi.org/10.3390/ijms242115572
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author Shatokhina, Olga
Kovalskaia, Valeriia
Sparber, Peter
Sharkova, Inna
Mishina, Irina
Kuznetsova, Vera
Ryzhkova, Oxana
author_facet Shatokhina, Olga
Kovalskaia, Valeriia
Sparber, Peter
Sharkova, Inna
Mishina, Irina
Kuznetsova, Vera
Ryzhkova, Oxana
author_sort Shatokhina, Olga
collection PubMed
description 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.
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spelling pubmed-106482482023-10-25 TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study Shatokhina, Olga Kovalskaia, Valeriia Sparber, Peter Sharkova, Inna Mishina, Irina Kuznetsova, Vera Ryzhkova, Oxana Int J Mol Sci Case Report 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. MDPI 2023-10-25 /pmc/articles/PMC10648248/ /pubmed/37958557 http://dx.doi.org/10.3390/ijms242115572 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Shatokhina, Olga
Kovalskaia, Valeriia
Sparber, Peter
Sharkova, Inna
Mishina, Irina
Kuznetsova, Vera
Ryzhkova, Oxana
TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study
title TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study
title_full TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study
title_fullStr TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study
title_full_unstemmed TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study
title_short TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study
title_sort tra2b gene splice variant linked to seizures and neurodevelopmental delay: a second case study
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10648248/
https://www.ncbi.nlm.nih.gov/pubmed/37958557
http://dx.doi.org/10.3390/ijms242115572
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