A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect. View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-04-06

AUTHORS

Manal Fardon, Hassan Dehaini, Amina Kamar, Fadi Bitar, Marianne Majdalani, Issam El-Rassi, Georges Nemer, Mariam Arabi

ABSTRACT

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. More... »

Journal

TITLE

Pediatric Cardiology

ISSUE

N/A

VOLUME

N/A

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00246-019-02099-y

DOI

http://dx.doi.org/10.1007/s00246-019-02099-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1113283267

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30955100


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