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Haploinsufficiencies of <i>FOXF1</i> and <i>FOXC2</i> genes associated with lethal alveolar capillary dysplasia and congenital heart disease

13 Apr 2010

Abstract excerpt

Neonatal deaths account for about 67% of all deaths during the first year of life in the USA. Genetic defects are important factors contributing to neonatal deaths and congenital anomalies. Here we report on the identification of a 1.37 Mb de novo deletion of chromosome 16q24.1-q24.2 by microarray-based comparative genomic hybridization (aCGH) technique in a newborn boy with lethal severe alveolar capillary...

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PMID: 20425831
DOI: 10.1002/ajmg.a.33378

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Haploinsufficiencies of <i>FOXF1</i> and <i>FOXC2</i> genes associated with lethal alveolar capillary dysplasia and congenital heart diseasePMID 20425831Read ↗

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 ↗

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.Semantic proximity Read ↗

Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate <i>FBLN2</i> , <i>PDGFD</i> and rare <i>de novo</i> variants in PAHSemantic proximity Read ↗

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

Comparative Analyses of Lung Transcriptomes in Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and in Foxf1 Heterozygous Knockout MiceSemantic proximity Read ↗

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

Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.Semantic proximity Read ↗

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart DiseaseSemantic proximity Read ↗

16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newbornSemantic proximity Read ↗

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and HydronephrosisSemantic proximity Read ↗

16p12.1 deletion orthologs are expressed in motile neural crest cells and are important for regulating craniofacial development in <i>Xenopus laevis</i>Semantic proximity Read ↗

Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary DysplasiaSemantic proximity Read ↗

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