ArticleEuropean journal of human genetics : EJHG2016
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
- Article
- A Rare Dual Atresia Case Report Introducing Gastric Distension-Assisted Esophageal Approximation (GDEA): A Hypothetical Novel Technique for Long-Gap Esophageal Atresia.International medical case reports journal · 2026Article
- A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Pediatric research · 2024Review
- Article
- Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.American journal of medical genetics. Part A · 2022Article
- Intrinsic Cellular Susceptibility to Barrett's Esophagus in Adults Born with Esophageal Atresia.Cancers · 2022Article
- Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction.BMC pregnancy and childbirth · 2022Article
- The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.International journal of molecular sciences · 2021Article
- Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.Genes · 2021Review
- Developmental basis of trachea-esophageal birth defects.Developmental biology · 2021Review
- Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.PLoS genetics · 2021Article
- Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs.Birth defects research · 2020Article
- Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.BMC medical genomics · 2020Article
- Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations.Molecular genetics & genomic medicine · 2020Article
- Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas.PloS one · 2020Article
- Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.PloS one · 2020Article
- Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.European journal of human genetics : EJHG · 2019Article
- A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.Pediatric surgery international · 2018Review
- Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Twin pregnancy complicated by esophageal atresia, duodenal atresia, gastric perforation, and hypoplastic left heart structures in one twin: a case report and review of the literature.Journal of medical case reports · 2017Review
Corrections and comments
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Authors and funding
27 authors at 5 institutions in 4 countries.
Funding
Abstract
Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients. A genetic background is suggested, and among the reported genetic defects are copy number variations (CNVs). We hypothesized that CNVs contribute to OA/TOF development. Quantifying their prevalence could aid in genetic diagnosis and clinical care strategies. Therefore, we profiled 375 patients in a combined Dutch, American and German cohort via genomic microarray and compared the CNV profiles with their unaffected parents and published control cohorts. We identified 167 rare CNVs containing genes (frequency<0.0005 in our in-house cohort). Eight rare CNVs - in six patients - were de novo, including one CNV previously associated with oesophageal disease. (hg19 chr7:g.(143820444_143839360)_(159119486_159138663)del) 1.55% of isolated OA/TOF patients and 1.62% of patients with additional congenital anomalies had de novo CNVs. Furthermore, three (15q13.3, 16p13.3 and 22q11.2) susceptibility loci were identified based on their overlap with known OA/TOF-associated CNV syndromes and overlap with loci in published CNV association case-control studies in developmental delay. Our study suggests that CNVs contribute to OA/TOF development. In addition to the identified likely deleterious de novo CNVs, we detected 167 rare CNVs. Although not directly disease-causing, these CNVs might be of interest, as they can act as a modifier in a multiple hit model, or as the second hit in a recessive condition.
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