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Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report
dc.contributor.author | Doménech, Nieves | |
dc.contributor.author | Guevara-Ramírez, Patricia | |
dc.contributor.author | Cadena-Ullauri, Santiago | |
dc.contributor.author | Ibarra-Castillo, Rita | |
dc.contributor.author | Laso-Bayas, José Luis | |
dc.contributor.author | Paz-Cruz, Elius | |
dc.contributor.author | Tamayo-Trujillo, Rafael | |
dc.contributor.author | Ruiz-Pozo, Viviana A. | |
dc.contributor.author | Ibarra Rodríguez, Adriana Alexandra | |
dc.contributor.author | Zambrano, Ana Karina | |
dc.date.accessioned | 2023-05-10T06:25:30Z | |
dc.date.available | 2023-05-10T06:25:30Z | |
dc.date.issued | 2023-03 | |
dc.identifier.citation | Guevara-Ramírez P, Cadena-Ullauri S, Ibarra- Castillo R, Laso-Bayas JL, Paz-Cruz E, Tamayo- Trujillo R, Ruiz-Pozo VA, Doménech N, Ibarra- Rodríguez AA and Zambrano AK (2023) Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report. Front. Cardiovasc. Med. 10:1141083. doi: 10.3389/fcvm.2023.1141083 | es_ES |
dc.identifier.uri | http://hdl.handle.net/2183/33040 | |
dc.description.abstract | [Abstract] Introduction: Cardiac laminopathies are caused by mutations in the LMNA gene and include a wide range of clinical manifestations involving electrical and mechanical changes in cardiomyocytes. In Ecuador, cardiovascular diseases were the primary cause of death in 2019, accounting for 26.5% of total deaths. Cardiac laminopathy-associated mutations involve genes coding for structural proteins with functions related to heart development and physiology. Family description: Two Ecuadorian siblings, self-identified as mestizos, were diagnosed with cardiac laminopathies and suffered embolic strokes. Moreover, by performing Next-Generation Sequencing, a pathogenic variant (NM_170707.3:c.1526del) was found in the gene LMNA. Discussion and conclusion: Currently, genetic tests are an essential step for disease genetic counseling, including cardiovascular disease diagnosis. Identification of a genetic cause that may explain the risk of cardiac laminopathies in a family can help the post-test counseling and recommendations from the cardiologist. In the present report, a pathogenic variant ((NM_170707.3:c.1526del) has been identified in two Ecuadorian siblings with cardiac laminopathies. The LMNA gene codes for A-type laminar proteins that are associated with gene transcription regulation. Mutations in the LMNA gene cause laminopathies, disorders with diverse phenotypic manifestations. Moreover, understanding the molecular biology of the disease-causing mutations is essential in deciding the correct type of treatment. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Frontiers | es_ES |
dc.relation.uri | doi: 10.3389/fcvm.2023.1141083 | es_ES |
dc.rights | Atribución 3.0 España | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | Cardiovascular disease | es_ES |
dc.subject | Enfermedad cardiovascular | es_ES |
dc.subject | Genome | es_ES |
dc.subject | Genoma | es_ES |
dc.subject | Precision medicine | es_ES |
dc.subject | Medicina de precisión | es_ES |
dc.subject | NGS | es_ES |
dc.subject | LMNA | es_ES |
dc.title | Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.access | info:eu-repo/semantics/openAccess | es_ES |
UDC.journalTitle | Frontiers in Cardiovascular Medicine | es_ES |
UDC.volume | 10 | es_ES |
UDC.startPage | 1141083 | es_ES |
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