ArticleJournal of medical genetics2006
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.
Article in Journal of medical genetics, 2006. 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, 70 citations in OpenAlex.
- Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.Haematologica · 2019Trial
- 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
- Thalidomide-induced limb malformations: an update and reevaluation.Archives of toxicology · 2025Review
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- The genetic etiologies of bilateral renal agenesis.Prenatal diagnosis · 2024Review
- Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.American journal of medical genetics. Part A · 2022Article
- Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.Molecular syndromology · 2020Article
- Article
- 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
- The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.Journal of medical genetics · 2016Review
- Concomitant inactivation of foxo3a and fancc or fancd2 reveals a two-tier protection from oxidative stress-induced hydrocephalus.Antioxidants & redox signaling · 2014Article
- Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.PloS one · 2014Article
- Considering the Embryopathogenesis of VACTERL Association.Molecular syndromology · 2013Article
- VATER/VACTERL Association: Evidence for the Role of Genetic Factors.Molecular syndromology · 2013Article
- Clinical geneticists' views of VACTERL/VATER association.American journal of medical genetics. Part A · 2012Review
- Fanconi anaemia with bilateral diffuse pulmonary arterio venous fistulae: a case report.BMC blood disorders · 2012Article
- VACTERL-H syndrome: first trimester diagnosis.Journal of the Turkish German Gynecological Association · 2011Article
- Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".Current gastroenterology reports · 2010Review
- Fanconi's anemia, type A presenting as VACTERL association with atresia right external auditory canal.Journal of perinatology : official journal of the California Perinatal Association · 2010Article
- Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.European journal of medical geneticsReview
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundThe VACTERL with hydrocephalus (VACTERL-H) phenotype is recognised to be a severe manifestation of autosomal recessive Fanconi anaemia. Several families have been described in which the VACTERL-H phenotype segregates as an X linked syndrome. The mutations which cause X linked VACTERL-H syndrome are not known.
objectiveTo determine if mutations in FANCB, which are known to cause Fanconi anaemia complementation group B, are a cause of X linked VACTERL-H syndrome.
methodsA three generation pedigree with X linked VACTERL-H syndrome was investigated. X inactivation was tested in carrier females, and fibroblasts from an affected male fetus were analysed for increased sensitivity to diepoxybutane. FANCB coding exons and flanking splice sites were screened for mutations by direct sequencing of polymerase chain reaction (PCR) fragments amplified from genomic DNA. cDNA from affected fetal fibroblasts was analysed by PCR and direct sequencing using specific exonic primers.
resultsA FANCB mutation which results in a premature stop codon by causing skipping of exon 7 was identified. Chromosomes from the affected fetus showed increased sensitivity to diepoxybutane, and carrier women were found to have 100% skewed X inactivation in blood.
conclusionsMutations in FANCB are a cause of X linked VACTERL-H syndrome. The data presented are of relevance to the genetic counselling of families with isolated male cases of VACTERL-H and Fanconi anaemia.
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