Evidence map›Paper›PMID 30955100›Full record

ArticlePediatric cardiology2019

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

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

Erratum issuedAbstract read
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In one paragraph

Article in Pediatric cardiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 45% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Pooled it
  2. Article
  3. Posttranscriptional Regulation by Proteins and Noncoding RNAs.Advances in experimental medicine and biology · 2024
    Article
  4. Article
  5. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors at 1 institution in 1 country.

Manal FardounDepartment of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
Hassan DehainiDepartment of Biology, American University of Beirut, Beirut, Lebanon.
Amina KamarDepartment of Biology, American University of Beirut, Beirut, Lebanon.
Fadi BitarDepartment of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
Marianne MajdalaniDepartment of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
Issam El-RassiDepartment of Surgery, American University of Beirut, Beirut, Lebanon.
Georges NemerDepartment of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
Mariam ArabiDepartment of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon. ma81@aub.edu.lb.
American University of Beirut · LB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Basic Helix-Loop-Helix ProteinsRepressor ProteinsAlternative SplicingDNA Mutational AnalysisHeart Septal Defects, VentricularHumansInfantMutationProtein IsoformsReverse Transcriptase Polymerase Chain ReactionSequence Analysis, DNABasic Helix-Loop-Helix ProteinsHEY2 protein, humanProtein IsoformsRepressor ProteinsCardiac transcription factorsCongenital heart defectsHEY2MutationVentricular septal defect

Identifiers

PMID30955100
OpenAlexW2934695770

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.