ArticleAmerican journal of medical genetics. Part A2016
De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.
Article in American journal of medical genetics. Part A, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 50 citations in OpenAlex.
- How Epigenetics Bridges Genes and Environment: A Multiomics Evidence Chain in Congenital Diaphragmatic Hernia.Birth defects research · 2026Review
- Review
- Contribution of omics to the pathophysiology of diaphragmatic hernias: a narrative review.European journal of pediatrics · 2025Review
- The etiology of congenital diaphragmatic hernia: the retinoid hypothesis 20 years later.Pediatric research · 2024Review
- International Union of Basic and Clinical Pharmacology CXIII: Nuclear Receptor Superfamily-Update 2023.Pharmacological reviews · 2023Review
- Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.European journal of human genetics : EJHG · 2023Article
- Article
- Connecting clinical, environmental, and genetic factors point to an essential role for vitamin A signaling in the pathogenesis of congenital diaphragmatic hernia.American journal of physiology. Lung cellular and molecular physiology · 2023Review
- Control of cranial ectomesenchyme fate by Nr2f nuclear receptors.Development (Cambridge, England) · 2022Article
- COUP-TFII in Kidneys, from Embryos to Sick Adults.Diagnostics (Basel, Switzerland) · 2022Review
- Underlying genetic etiologies of congenital diaphragmatic hernia.Prenatal diagnosis · 2022Review
- Genetics of diaphragmatic hernia.European journal of human genetics : EJHG · 2021Review
- The Role ofGenes · 2021Review
- Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.International journal of molecular sciences · 2021Review
- Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.Frontiers in pediatrics · 2021Review
- The influence of genetics in congenital diaphragmatic hernia.Seminars in perinatology · 2020Review
- COUP-TFII in Health and Disease.Cells · 2019Review
- Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.Lancet (London, England) · 2019Article
- Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.Birth defects research · 2018Article
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Authors and funding
6 authors at 5 institutions in 1 country.
Funding
Abstract
COUP-TFII (NR2F2) is mapped to the 15q26 deletion hotspot associated with the common and highly morbid congenital diaphragmatic hernia (CDH). Conditional homozygous deletions of COUP-TFII in mice result in diaphragmatic defects analogous to the human Bochdalek-type hernia phenotype. Despite evidence from animal models however, mutations in the coding sequence of COUP-TFII have not been reported in patients, prompting the speculation that additional coding or non-coding sequences in the 15q26 locus are necessary for diaphragmatic hernias to develop. In this report, we describe a case of a patient with a heterozygous de novo COUP-TFII frameshift mutation, presenting with CDH and an atrial septal defect. The p.Pro33AlafsTer77 mutation specifically disrupts protein isoform 1 which contains the DNA binding domain. In addition, we review other COUP-TFII sequence variations and deletions that have been described in cases of CDH. We conclude that COUP-TFII mutations can cause diaphragmatic hernias, and should be included in the differential diagnosis of CDH patients, particularly those with comorbid congenital heart defects. © 2016 Wiley Periodicals, Inc.
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