ArticleAmerican journal of medical genetics. Part A2012
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 28 citations in OpenAlex.
- The role of genes and environment in the etiology of congenital diaphragmatic hernias.Current topics in developmental biology · 2023Review
- Underlying genetic etiologies of congenital diaphragmatic hernia.Prenatal diagnosis · 2022Review
- Embryology of the Abdominal Wall and Associated Malformations-A Review.Frontiers in surgery · 2022Review
- Cell culture system to assay candidate genes and molecular pathways implicated in congenital diaphragmatic hernias.Developmental biology · 2020Article
- Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.Birth defects research · 2018Article
- Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Disease models & mechanisms · 2017Review
- Abnormal Paraventricular Nucleus of Hypothalamus and Growth Retardation Associated with Loss of Nuclear Receptor Gene COUP-TFII.Scientific reports · 2017Article
- Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.The American journal of pathology · 2016Review
- Decreased expression of hepatocyte growth factor in the nitrofen model of congenital diaphragmatic hernia.Pediatric surgery international · 2016Article
- De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.American journal of medical genetics. Part A · 2016Article
- Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias.Nature genetics · 2015Article
- FBN1 contributing to familial congenital diaphragmatic hernia.American journal of medical genetics. Part A · 2015Article
- Article
- Rare variants in NR2F2 cause congenital heart defects in humans.American journal of human genetics · 2014Article
- Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.Molecular autism · 2014Article
- Development of the diaphragm -- a skeletal muscle essential for mammalian respiration.The FEBS journal · 2013Review
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Authors and funding
19 authors at 2 institutions in 1 country.
Funding
Abstract
Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that causes high newborn mortality. Isolated or non-syndromic CDH is considered a multifactorial disease, with strong evidence implicating genetic factors. As low heritability has been reported in isolated CDH, family-based genetic methods have yet to identify the genetic factors associated with the defect. Using the Utah Population Database, we identified distantly related patients from several extended families with a high incidence of isolated CDH. Using high-density genotyping, seven patients were analyzed by homozygosity exclusion rare allele mapping (HERAM) and phased haplotype sharing (HapShare), two methods we developed to map shared chromosome regions. Our patient cohort shared three regions not previously associated with CDH, that is, 2q11.2-q12.1, 4p13 and 7q11.2, and two regions previously involved in CDH, that is, 8p23.1 and 15q26.2. The latter regions contain GATA4 and NR2F2, two genes implicated in diaphragm formation in mice. Interestingly, three patients shared the 8p23.1 locus and one of them also harbored the 15q26.2 segment. No coding variants were identified in GATA4 or NR2F2, but a rare shared variant was found in intron 1 of GATA4. This work shows the role of heritability in isolated CDH. Our family-based strategy uncovers new chromosomal regions possibly associated with disease, and suggests that non-coding variants of GATA4 and NR2F2 may contribute to the development of isolated CDH. This approach could speed up the discovery of the genes and regulatory elements causing multifactorial diseases, such as isolated CDH.
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