ArticleMolecular syndromology2013
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Pediatric research · 2024Review
- A Cohort of 469 Mayer-Rokitansky-Küster-Hauser Syndrome Patients-Associated Malformations, Syndromes, and Heterogeneity of the Phenotype.Journal of clinical medicine · 2024Article
- Developmental basis of trachea-esophageal birth defects.Developmental biology · 2021Review
- The VACTERL association: mosaic mitotic aneuploidy as a cause and a model.Journal of assisted reproduction and genetics · 2019Review
- Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum.Neonatology · 2017Article
- Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.Journal of medical case reports · 2016Review
- Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.European journal of human genetics : EJHG · 2016Article
- The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.Journal of medical genetics · 2016Review
- The Surgical Correction of Congenital Deformities: The Treatment of Diaphragmatic Hernia, Esophageal Atresia and Small Bowel Atresia.Deutsches Arzteblatt international · 2015Review
- VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality.Oxford medical case reports · 2015Article
- Structural and numerical changes of chromosome X in patients with esophageal atresia.European journal of human genetics : EJHG · 2014Article
- An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association.The Journal of pediatrics · 2014Review
- Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.PloS one · 2014Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copy number variations (CNVs), either DNA gains or losses, have been found at common regions throughout the human genome. Most CNVs neither have a pathogenic significance nor result in disease-related phenotypes but, instead, reflect the normal population variance. However, larger CNVs, which often arise de novo, are frequently associated with human disease. A genetic contribution has long been suspected in VACTERL (Vertebral, Anal, Cardiac, TracheoEsophageal fistula, Renal and Limb anomalies) association. The anomalies observed in this association overlap with several monogenetic conditions associated with mutations in specific genes, e.g. Townes Brocks (SALL1), Feingold syndrome (MYCN) or Fanconi anemia. So far VACTERL association has typically been considered a diagnosis of exclusion. Identifying recurrent or de novo genomic variations in individuals with VACTERL association could make it easier to distinguish VACTERL association from other syndromes and could provide insight into disease mechanisms. Sporadically, de novo CNVs associated with VACTERL are described in literature. In addition to this literature review of genomic variation in published VACTERL association patients, we describe CNVs present in 68 VACTERL association patients collected in our institution. De novo variations (>30 kb) are absent in our VACTERL association cohort. However, we identified recurrent rare CNVs which, although inherited, could point to mechanisms or biological processes contributing to this constellation of developmental defects.
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