Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report
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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 reportAutor(es)
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2023-03Cita bibliográfica
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
Resumo
[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.
Palabras chave
Cardiovascular disease
Enfermedad cardiovascular
Genome
Genoma
Precision medicine
Medicina de precisión
NGS
LMNA
Enfermedad cardiovascular
Genome
Genoma
Precision medicine
Medicina de precisión
NGS
LMNA
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Atribución 3.0 España