Evidence map›Paper›PMID 40076735›Full record

ArticleInternational journal of molecular sciences2025

Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects.

Gloria K E Zodanu, John H Hwang, Jordan Mudery, Carlos Sisniega, Xuedong Kang, Lee-Kai Wang, Alexander Barsegian, Reshma M Biniwale, Ming-Sing Si, Nancy J Halnon and 6 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Gloria K E ZodanuNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
John H HwangNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.ORCID 0000-0002-7350-407X
Jordan MuderyNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.ORCID 0000-0003-0438-8607
Carlos SisniegaNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.ORCID 0000-0003-3322-8434
Xuedong KangNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Lee-Kai WangDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.ORCID 0000-0002-7108-2897
Alexander BarsegianNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Reshma M BiniwaleDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.ORCID 0000-0002-2409-0907
Ming-Sing SiDepartment of Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Nancy J HalnonDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Ucla Congenital Heart Defects-BioCore Faculty
Wayne W GrodyDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Gary M SatouDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Glen S Van ArsdellDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Stanly F NelsonDepartment of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Marlin ToumaNeonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.ORCID 0000-0002-2827-4068

Funding

UCLA Medical Genetics Training ProgramT32GM008243 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Julian Martinez-Agosto, STANLEY F. NELSON · 1987 to 2026
$6.8M
Novel Gene-Environment Regulatory Circuit in Chamber-Specific Growth of Perinatal HeartR01HL153853 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI TOUMA, MARLIN · 2020 to 2023
$1.6M
UCLA Pediatric Research Education Program in Bioinformatics, Computational Biology, and OmicsR25HD109116 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Sherin U Devaskar, JOSEPHINE M ENCISO · 2023 to 2026
$645k
NHLBI NIH HHS R01 HL153853NICHD NIH HHS R25 HD109116NIGMS NIH HHS T32 GM008243NIH/NHLBI 1R01 HL153853-01NIH/NICHHD R25Actf HD109116Projectf01A1NIH/NIGMS T32GM008243
6 · The paper itself

Abstract

One out of every hundred live births present with congenital heart abnormalities caused by the aberrant development of the embryonic cardiovascular system. The conserved zinc finger transcription factor proteins, which include GATA binding protein 5 (GATA5) and GATA binding protein (GATA6) play important roles in embryonic development and their inactivation may result in congenital heart defects (CHDs). In this study, we performed genotypic-phenotypic analyses in two families affected by right-sided CHD diagnosed by echocardiography imaging. Proband A presented with pulmonary valve stenosis, and proband B presented with complex CHD involving the right heart structures. For variant detection, we employed whole-genome single-nucleotide polymorphism (SNP) microarray and family-based whole-exome sequencing (WES) studies. Proband A is a full-term infant who was admitted to the neonatal intensive care unit (NICU) at five days of life for pulmonary valve stenosis (PVS). Genomic studies revealed a normal SNP microarray; however, quad WES analysis identified a novel heterozygous [Chr20:g.61041597C>G (p.Arg237Pro)] variant in the

Indexed as

Exome SequencingGATA5 Transcription FactorGATA6 Transcription FactorHeart Defects, CongenitalFemaleHumansInfant, NewbornMalePedigreePolymorphism, Single NucleotideGATA5 protein, humanGATA5 Transcription FactorGATA6 protein, humanGATA6 Transcription FactorGATApulmonary valve stenosisright-sided CHDright ventricle hypoplasiatranscription factorwhole-exome sequencingzinc finger-containing protein

Identifiers

PMID40076735
PMCPMC11901071

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Registered trials

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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.