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Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis

23 Feb 2023

Abstract excerpt

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hypertension. Heterozygous single-nucleotide variants or copy-number variant (CNV) deletions involving the FOXF1 gene and/or its lung-specific enhancer are found in the...

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PMID: 36980834
DOI: 10.3390/genes14030563

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Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and HydronephrosisPMID 36980834Read ↗

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Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.Semantic proximity Read ↗

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary VeinsSemantic proximity Read ↗

Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPVSemantic proximity Read ↗

Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development.Semantic proximity Read ↗

Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiencySemantic proximity Read ↗

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Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspectsSemantic proximity Read ↗

Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema–distichiasis syndrome: relationship to phenotypeSemantic proximity Read ↗

Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family.Semantic proximity Read ↗

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