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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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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. |
format | Online Article Text |
id | pubmed-10648248 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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