ArticlePloS one2014
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- In Vitro Fertilization and VACTERL Birth Defects.JAMA network open · 2026Article
- Prenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Review
- Mouse Models of Human Proprotein Convertase Insufficiency.Endocrine reviews · 2021Review
- Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.Molecular syndromology · 2020Article
- Maternal risk factors for the VACTERL association: A EUROCAT case-control study.Birth defects research · 2020Article
- Article
- Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations.Molecular genetics & genomic medicine · 2020Article
- A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.Frontiers in pediatrics · 2020Article
- Genotype-phenotype associations in Fanconi anemia: A literature review.Blood reviews · 2019Review
- Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.Molecular genetics & genomic medicine · 2019Article
- Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.Molecular genetics & genomic medicine · 2018Article
- Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.Pediatric nephrology (Berlin, Germany) · 2016Review
- The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.Journal of medical genetics · 2016Review
- PCSK5 mutation in a patient with the VACTERL association.BMC research notes · 2015Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In order to identify genetic causes of VACTERL association (V vertebral defects, A anorectal malformations, C cardiac defects, T tracheoesofageal fistula, E esophageal atresia, R renal anomalies, L limb deformities), we have collected DNA samples from 20 patients diagnosed with VACTERL or with a VACTERL-like phenotype as well as samples from 19 aborted fetal cases with VACTERL. To investigate the importance of gene dose alterations in the genetic etiology of VACTERL association we have performed a systematic analysis of this cohort using a 180K array comparative genomic hybridization (array-CGH) platform. In addition, to further clarify the significance of PCSK5, HOXD13 and CHD7 genes in the VACTERL phenotype, mutation screening has been performed. We identified pathogenic gene dose imbalances in two fetal cases; a hemizygous deletion of the FANCB gene and a (9;18)(p24;q12) unbalanced translocation. In addition, one pathogenic mutation in CHD7 was detected, while no apparent disease-causing mutations were found in HOXD13 or PCSK5. Our study shows that although large gene dose alterations do not seem to be a common cause in VACTERL association, array-CGH is still important in clinical diagnostics to identify disease cause in individual cases.
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