A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect
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24 janvier 2025
- 10938/28955
- 30955100.0
- 2-s2.0-85064330498
Ce document est lié à :
Pediatric Cardiology
Mots-clés
Cardiac transcription factors Congenital heart defects Hey2 Mutation Ventricular septal defect Alternative splicing Basic helix-loop-helix transcription factors Dna mutational analysis Heart septal defects, ventricular Humans Infant Protein isoforms Repressor proteins Reverse transcriptase polymerase chain reaction Sequence analysis, dna Basic helix loop helix transcription factor Hey2 protein, human Isoprotein Repressor protein Alternative rna splicing Dna sequence Genetics Heart septum defect Human Reverse transcription polymerase chain reactionSujets proches
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Fardoun et al., « A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect », American University of Beirut ScholarWorks
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Résumé
Congenital heart defects (CHDs) are the leading cause of death in infants under 1 year of age. Aberrations in the expression and function of cardiac transcription factors (TFs) are a major contributor to CHDs. Despite the numerous studies undertaken to functionally characterize these TFs, their exact role in different stages of cardiogenesis is still not fully elucidated. Here we focused on HEY2, a basic helix loop helix transcriptional repressor, and its potential role in human ventricular septal defects. Genetic analysis was performed based on sequencing of DNA and cDNA obtained from post-operational cardiac tissues and blood of 17 Lebanese patients with various CHDs. The screen covered the entire coding regions of the GATA4, NKX2.5, TBX5, TBX20 and HEY2 genes. Our results revealed two novel somatic mutations, namely p.Ala229Thr and p.161_190 del, affecting HEY2 in the diseased cardiac tissues of two patients with VSD. These results suggest a potential role of HEY2 in regulating ventricular septation in humans. © 2019, Springer Science+Business Media, LLC, part of Springer Nature.
