ArticleAmerican journal of medical genetics. Part A2009
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 1 of them a synthesis that pooled it.
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Who cites it
79 citing papers in PubMed, 1 synthesis or guideline pooled it, 176 citations in OpenAlex.
- Twenty-Five Novel Loci for Carotid Intima-Media Thickness: A Genome-Wide Association Study in >45 000 Individuals and Meta-Analysis of >100 000 Individuals.Arteriosclerosis, thrombosis, and vascular biology · 2022Pooled it
- Effect of copy number variants on outcomes for infants with single ventricle heart defects.Circulation. Cardiovascular genetics · 2013Trial
- Functional genomics iniScience · 2026Article
- Enhanced genetic diagnosis in early pregnancy loss: an integrated approach using CNV-Seq and STR genotyping.Reproductive biology and endocrinology : RB&E · 2026Article
- Mechanical compression causes lung hypoplasia in congenital diaphragmatic hernia with GATA4 genetic variants.American journal of physiology. Lung cellular and molecular physiology · 2026Article
- Unravelling the genetic architecture of cardiovascular disease through structural variant detection with whole-genome sequencing.Frontiers in genetics · 2026Review
- Contribution of omics to the pathophysiology of diaphragmatic hernias: a narrative review.European journal of pediatrics · 2025Review
- Integrative Functional Genomics Identifies ARHGAP10 in the 4q31.2 Locus as a Novel Congenital Heart Disease and Ciliopathy Gene.bioRxiv : the preprint server for biology · 2025Article
- Article
- An asymptomatic male individual carrying a 5.72 MbExperimental and therapeutic medicine · 2024Article
- Human Genetics of Tricuspid Atresia and Univentricular Heart.Advances in experimental medicine and biology · 2024Article
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Advances in experimental medicine and biology · 2024Review
- Human Genetics of Congenital Heart Defects.Advances in experimental medicine and biology · 2024Review
- aCGH Analysis Reveals Novel Mutations Associated with Congenital Diaphragmatic Hernia Plus (CDH+).Journal of clinical medicine · 2023Article
- SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.Human molecular genetics · 2023Article
- Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.Reproductive biology and endocrinology : RB&E · 2023Article
- Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients.Frontiers in genetics · 2023Article
- The role of genes and environment in the etiology of congenital diaphragmatic hernias.Current topics in developmental biology · 2023Review
- Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects.Circulation. Genomic and precision medicine · 2022Article
19 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p-OR-REPD and 8p-OR-REPP is associated with a spectrum of anomalies that can include congenital heart malformations and congenital diaphragmatic hernia (CDH). Haploinsufficiency of GATA4 is thought to play a critical role in the development of these birth defects. We describe two individuals and a monozygotic twin pair discordant for anterior CDH all of whom have complex congenital heart defects caused by this recurrent interstitial deletion as demonstrated by array comparative genomic hybridization. To better define the genotype/phenotype relationships associated with alterations of genes on 8p23.1, we review the spectrum of congenital heart and diaphragmatic defects that have been reported in individuals with isolated GATA4 mutations and interstitial, terminal, and complex chromosomal rearrangements involving the 8p23.1 region. Our findings allow us to clearly define the CDH minimal deleted region on chromosome 8p23.1 and suggest that haploinsufficiency of other genes, in addition to GATA4, may play a role in the severe cardiac and diaphragmatic defects associated with 8p23.1 deletions. These findings also underscore the importance of conducting a careful cytogenetic/molecular analysis of the 8p23.1 region in all prenatal and postnatal cases involving congenital defects of the heart and/or diaphragm.
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