Doménech, NievesGuevara-Ramírez, PatriciaCadena-Ullauri, SantiagoIbarra-Castillo, RitaLaso-Bayas, José LuisPaz-Cruz, EliusTamayo-Trujillo, RafaelRuiz-Pozo, Viviana A.Ibarra Rodríguez, Adriana AlexandraZambrano, Ana Karina2023-05-102023-05-102023-03Guevara-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.2023.1141083http://hdl.handle.net/2183/33040[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.engAtribución 3.0 Españahttp://creativecommons.org/licenses/by/3.0/es/Cardiovascular diseaseEnfermedad cardiovascularGenomeGenomaPrecision medicineMedicina de precisiónNGSLMNAjournal articleopen access