Brugada Syndrome and <i>GPD1L</i>: Definite Genotype-Phenotype Association?
The <i>GPD1L</i> gene encodes a small cytoplasmic protein that is involved in the regulation of sodium currents. Alterations in this gene have been associated with Brugada syndrome. This rare arrhythmogenic syndrome is characterized by a typical electrocardiographic pattern, incomplete p...
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2025-03-01
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| author | Andrea Greco Estefanía Martínez-Barrios José Cruzalegui Sergi Cesar Fredy Chipa Nuria Díez-Escuté Patricia Cerralbo Irene Zschaeck Paula Loredo Georgia Sarquella-Brugada Oscar Campuzano |
| author_facet | Andrea Greco Estefanía Martínez-Barrios José Cruzalegui Sergi Cesar Fredy Chipa Nuria Díez-Escuté Patricia Cerralbo Irene Zschaeck Paula Loredo Georgia Sarquella-Brugada Oscar Campuzano |
| author_sort | Andrea Greco |
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| description | The <i>GPD1L</i> gene encodes a small cytoplasmic protein that is involved in the regulation of sodium currents. Alterations in this gene have been associated with Brugada syndrome. This rare arrhythmogenic syndrome is characterized by a typical electrocardiographic pattern, incomplete penetrance, variable expressivity, and risk of sudden cardiac death. To date, few families with a clinical diagnosis of Brugada syndrome caused by a rare alteration in the <i>GPD1L</i> gene have been reported worldwide. The increase in data focused on genetic variants allows us to improve the interpretation of their role in Brugada syndrome. In our study, we have compiled the <i>GPD1L</i> variants reported so far in patients with a definitive clinical diagnosis or suspected Brugada syndrome. We performed an exhaustive update and interpretation of each variant following the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Our results showed that none of the variants described to date can be classified as truly harmful in Brugada syndrome. Despite this fact, more clinical and genetic data are needed to definitively rule out the <i>GPD1L</i> gene as a cause of Brugada syndrome. In summary, to date, there is insufficient evidence to conclude a definitive association between <i>GPD1L</i> and Brugada syndrome. |
| format | Article |
| id | doaj-art-c9a73a5b006141abb6785a18bce6fa35 |
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| issn | 2035-8253 2035-8148 |
| language | English |
| publishDate | 2025-03-01 |
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| series | Cardiogenetics |
| spelling | doaj-art-c9a73a5b006141abb6785a18bce6fa352025-08-20T02:11:18ZengMDPI AGCardiogenetics2035-82532035-81482025-03-01151910.3390/cardiogenetics15010009Brugada Syndrome and <i>GPD1L</i>: Definite Genotype-Phenotype Association?Andrea Greco0Estefanía Martínez-Barrios1José Cruzalegui2Sergi Cesar3Fredy Chipa4Nuria Díez-Escuté5Patricia Cerralbo6Irene Zschaeck7Paula Loredo8Georgia Sarquella-Brugada9Oscar Campuzano10Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, SpainArrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, SpainArrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, SpainArrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, SpainArrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, SpainArrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, SpainArrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, SpainArrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, SpainArrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, SpainArrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, SpainMedical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, SpainThe <i>GPD1L</i> gene encodes a small cytoplasmic protein that is involved in the regulation of sodium currents. Alterations in this gene have been associated with Brugada syndrome. This rare arrhythmogenic syndrome is characterized by a typical electrocardiographic pattern, incomplete penetrance, variable expressivity, and risk of sudden cardiac death. To date, few families with a clinical diagnosis of Brugada syndrome caused by a rare alteration in the <i>GPD1L</i> gene have been reported worldwide. The increase in data focused on genetic variants allows us to improve the interpretation of their role in Brugada syndrome. In our study, we have compiled the <i>GPD1L</i> variants reported so far in patients with a definitive clinical diagnosis or suspected Brugada syndrome. We performed an exhaustive update and interpretation of each variant following the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Our results showed that none of the variants described to date can be classified as truly harmful in Brugada syndrome. Despite this fact, more clinical and genetic data are needed to definitively rule out the <i>GPD1L</i> gene as a cause of Brugada syndrome. In summary, to date, there is insufficient evidence to conclude a definitive association between <i>GPD1L</i> and Brugada syndrome.https://www.mdpi.com/2035-8148/15/1/9arrhythmiasBrugada syndrome<i>GPD1L</i>geneticsreinterpretation |
| spellingShingle | Andrea Greco Estefanía Martínez-Barrios José Cruzalegui Sergi Cesar Fredy Chipa Nuria Díez-Escuté Patricia Cerralbo Irene Zschaeck Paula Loredo Georgia Sarquella-Brugada Oscar Campuzano Brugada Syndrome and <i>GPD1L</i>: Definite Genotype-Phenotype Association? Cardiogenetics arrhythmias Brugada syndrome <i>GPD1L</i> genetics reinterpretation |
| title | Brugada Syndrome and <i>GPD1L</i>: Definite Genotype-Phenotype Association? |
| title_full | Brugada Syndrome and <i>GPD1L</i>: Definite Genotype-Phenotype Association? |
| title_fullStr | Brugada Syndrome and <i>GPD1L</i>: Definite Genotype-Phenotype Association? |
| title_full_unstemmed | Brugada Syndrome and <i>GPD1L</i>: Definite Genotype-Phenotype Association? |
| title_short | Brugada Syndrome and <i>GPD1L</i>: Definite Genotype-Phenotype Association? |
| title_sort | brugada syndrome and i gpd1l i definite genotype phenotype association |
| topic | arrhythmias Brugada syndrome <i>GPD1L</i> genetics reinterpretation |
| url | https://www.mdpi.com/2035-8148/15/1/9 |
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