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The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report

Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familial forms of LVNC is helpful for risk prediction and...

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Autores principales: Myasnikov, Roman, Brodehl, Andreas, Meshkov, Alexey, Kulikova, Olga, Kiseleva, Anna, Pohl, Greta Marie, Sotnikova, Evgeniia, Divashuk, Mikhail, Klimushina, Marina, Zharikova, Anastasia, Pokrovskaya, Maria, Koretskiy, Sergey, Kharlap, Maria, Mershina, Elena, Sinitsyn, Valentin, Basargina, Elena, Gandaeva, Leila, Barskiy, Vladimir, Boytsov, Sergey, Milting, Hendrik, Drapkina, Oxana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268202/
https://www.ncbi.nlm.nih.gov/pubmed/34202524
http://dx.doi.org/10.3390/ijms22136775
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author Myasnikov, Roman
Brodehl, Andreas
Meshkov, Alexey
Kulikova, Olga
Kiseleva, Anna
Pohl, Greta Marie
Sotnikova, Evgeniia
Divashuk, Mikhail
Klimushina, Marina
Zharikova, Anastasia
Pokrovskaya, Maria
Koretskiy, Sergey
Kharlap, Maria
Mershina, Elena
Sinitsyn, Valentin
Basargina, Elena
Gandaeva, Leila
Barskiy, Vladimir
Boytsov, Sergey
Milting, Hendrik
Drapkina, Oxana
author_facet Myasnikov, Roman
Brodehl, Andreas
Meshkov, Alexey
Kulikova, Olga
Kiseleva, Anna
Pohl, Greta Marie
Sotnikova, Evgeniia
Divashuk, Mikhail
Klimushina, Marina
Zharikova, Anastasia
Pokrovskaya, Maria
Koretskiy, Sergey
Kharlap, Maria
Mershina, Elena
Sinitsyn, Valentin
Basargina, Elena
Gandaeva, Leila
Barskiy, Vladimir
Boytsov, Sergey
Milting, Hendrik
Drapkina, Oxana
author_sort Myasnikov, Roman
collection PubMed
description Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familial forms of LVNC is helpful for risk prediction and genetic counseling of relatives. Here, we present a family consisting of three members with LVNC. Using a next-generation sequencing approach a combination of two (likely) pathogenic nonsense mutations DSG2-p.S363X and TBX20-p.D278X was identified in all three patients. TBX20 encodes the cardiac T-box transcription factor 20. DSG2 encodes desmoglein–2, which is part of the cardiac desmosomes and belongs to the cadherin family. Since the identified nonsense variant (DSG2-p.S363X) is localized in the extracellular domain of DSG2, we performed in vitro cell transfection experiments. These experiments revealed the absence of truncated DSG2 at the plasma membrane, supporting the pathogenic relevance of DSG2-p.S363X. In conclusion, we suggest that in the future, these findings might be helpful for genetic screening and counseling of patients with LVNC.
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spelling pubmed-82682022021-07-10 The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report Myasnikov, Roman Brodehl, Andreas Meshkov, Alexey Kulikova, Olga Kiseleva, Anna Pohl, Greta Marie Sotnikova, Evgeniia Divashuk, Mikhail Klimushina, Marina Zharikova, Anastasia Pokrovskaya, Maria Koretskiy, Sergey Kharlap, Maria Mershina, Elena Sinitsyn, Valentin Basargina, Elena Gandaeva, Leila Barskiy, Vladimir Boytsov, Sergey Milting, Hendrik Drapkina, Oxana Int J Mol Sci Case Report Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familial forms of LVNC is helpful for risk prediction and genetic counseling of relatives. Here, we present a family consisting of three members with LVNC. Using a next-generation sequencing approach a combination of two (likely) pathogenic nonsense mutations DSG2-p.S363X and TBX20-p.D278X was identified in all three patients. TBX20 encodes the cardiac T-box transcription factor 20. DSG2 encodes desmoglein–2, which is part of the cardiac desmosomes and belongs to the cadherin family. Since the identified nonsense variant (DSG2-p.S363X) is localized in the extracellular domain of DSG2, we performed in vitro cell transfection experiments. These experiments revealed the absence of truncated DSG2 at the plasma membrane, supporting the pathogenic relevance of DSG2-p.S363X. In conclusion, we suggest that in the future, these findings might be helpful for genetic screening and counseling of patients with LVNC. MDPI 2021-06-24 /pmc/articles/PMC8268202/ /pubmed/34202524 http://dx.doi.org/10.3390/ijms22136775 Text en © 2021 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
Myasnikov, Roman
Brodehl, Andreas
Meshkov, Alexey
Kulikova, Olga
Kiseleva, Anna
Pohl, Greta Marie
Sotnikova, Evgeniia
Divashuk, Mikhail
Klimushina, Marina
Zharikova, Anastasia
Pokrovskaya, Maria
Koretskiy, Sergey
Kharlap, Maria
Mershina, Elena
Sinitsyn, Valentin
Basargina, Elena
Gandaeva, Leila
Barskiy, Vladimir
Boytsov, Sergey
Milting, Hendrik
Drapkina, Oxana
The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report
title The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report
title_full The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report
title_fullStr The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report
title_full_unstemmed The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report
title_short The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report
title_sort double mutation dsg2-p.s363x and tbx20-p.d278x is associated with left ventricular non-compaction cardiomyopathy: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268202/
https://www.ncbi.nlm.nih.gov/pubmed/34202524
http://dx.doi.org/10.3390/ijms22136775
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