Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report

• Published in: Frontiers in cardiovascular medicine Vol. 10; p. 1141083
• Main Authors: Guevara-Ramírez, Patricia, Cadena-Ullauri, Santiago, Ibarra-Castillo, Rita, Laso-Bayas, José Luis, Paz-Cruz, Elius, Tamayo-Trujillo, Rafael, Ruiz-Pozo, Viviana A, Doménech, Nieves, Ibarra-Rodríguez, Adriana Alexandra, Zambrano, Ana Karina
• Format: Report
• Language: English
• Published: 01.01.2023
• ISSN: 2297-055X; 2297-055X
• DOI: 10.3389/fcvm.2023.1141083

IntroductionCardiac 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 descriptionTwo 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 conclusionCurrently, 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.