ArticleHuman mutation2013
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 22 citations in OpenAlex.
- FOXF1 and alveolar-vascular dysregulation in bronchopulmonary dysplasia-associated pulmonary hypertension.Frontiers in physiology · 2026Review
- Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasia.Nature communications · 2024Article
- High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.Molecular genetics & genomic medicine · 2022Article
- Successful Management of an Infant with Atypical Presentation of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins.Journal of pediatric intensive care · 2021Article
- FOXF1 as an Immunohistochemical Marker of Hilar Cholangiocarcinoma or Metastatic Pancreatic Ductal Adenocarcinoma. Single Institution Experience.Pathology oncology research : POR · 2021Article
- An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia withoutFrontiers in genetics · 2021Article
- A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation.Diagnostic pathology · 2020Article
- Novel parent-of-origin-specific differentially methylated loci on chromosome 16.Clinical epigenetics · 2019Article
- Deep intronic mutations and human disease.Human genetics · 2017Review
- Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia.Clinical case reports · 2017Article
- Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.Human genetics · 2016Article
- ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.Current genomics · 2015Article
- Interstitial Lung Disease in Childhood: Clinical and Genetic Aspects.Clinical medicine insights. Circulatory, respiratory and pulmonary medicine · 2015Review
- Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.BMC medical genetics · 2014Article
- Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.American journal of medical genetics. Part A · 2014Article
- In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.Molecular biology reports · 2014Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Haploinsufficiency of FOXF1 causes an autosomal dominant neonatally lethal lung disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). We identified novel 0.8-kb deletion within the 1.4-kb intron of FOXF1 in a deceased newborn diagnosed with ACDMPV. The deletion arose de novo on the maternal copy of the chromosome 16, and did not affect FOXF1 minigene splicing tested in lung fibroblasts. However, FOXF1 transcript level in the ACDMPV peripheral lung tissue was reduced by almost 40%. We found that, in an in vitro reporter assay, the FOXF1 intron exhibited moderate transcriptional enhancer activity, correlating with the presence of binding sites for expression regulators CTCF and CEBPB, whereas its truncated copy, which lost major CTCF and CEBPB-binding sites, inhibited the FOXF1 promoter. Our data further emphasize the importance of testing the non-protein coding regions of the genome currently not covered by diagnostic chromosomal microarray analyses or whole-exome sequencing.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.