|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Moreover, in a family with three histopathologically-diagnosed ACDMPV siblings whose missense FOXF1 mutation was inherited from the healthy non-mosaic carrier mother, we have identified a rare SNV rs28571077-A within 2-kb of the above-mentioned non-coding SNVs in the FOXF1 enhancer in the mother, that was absent in the affected newborns and 13 unrelated ACDMPV patients with CNV deletions of this genomic region.
|
31686214 |
2019 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a third unrelated ACDMPV family with the same de novo variant and propose that a direct tandem repeat of eight consecutive nucleotides GCGGCGGC within the ~4 kb CpG island in FOXF1 exon 1 is a novel mutation hotspot causative for ACDMPV.
|
31436901 |
2019 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CNVs upstream of the FOXF1 gene have also been associated with an ACDMPV phenotype, but mechanism(s) by which these deletions disrupt lung development are not well understood.
|
31662342 |
2019 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.
|
30058937 |
2019 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although ACDMPV is linked to mutations in the <i>FOXF1</i> gene, molecular mechanisms through which FOXF1 mutations cause ACDMPV are unknown.<b>Objectives:</b> To identify molecular mechanisms by which S52F FOXF1 mutations cause ACDMPV.<b>Methods:</b> We generated a clinically relevant mouse model of ACDMPV by introducing the S52F FOXF1 mutation into the mouse <i>Foxf1</i> gene locus using CRISPR/Cas9 technology.
|
31199666 |
2019 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal neonatal developmental lung disorder caused by point mutations or copy-number variant (CNV) deletions of FOXF1 or its distant tissue-specific enhancer.
|
30084155 |
2018 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present two patients with ACDMPV and FOXF1 mutations that illustrate the variability in presentation and outcome of their disease.
|
30380203 |
2018 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Herein, we describe a newborn boy with ACD/MPV carrying a novel pathogenic variant of FOXF1.
|
28332379 |
2017 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Homozygous Foxf1 <sup>-/-</sup> mice have been shown to die by embryonic day 8.5 because of defects in the development of extraembryonic and lateral mesoderm-derived tissues, whereas heterozygous Foxf1 <sup>+/-</sup> mice exhibit features resembling ACDMPV.
|
28405742 |
2017 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present a presumptive prenatal diagnosis of ACDMPV based on chorionic villus sampling of a FOXF1 mutation in a fetus with extra-pulmonary anomalies often associated with ACDMPV.
|
26703872 |
2016 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16.
|
27071622 |
2016 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygous mutations in the FOXF1 transcription factor gene are implicated in alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a developmental disorder of the lungs classically presenting with pulmonary hypertension and early demise.
|
27145217 |
2016 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16.
|
27071622 |
2016 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the FOXF1 transcription factor gene are implicated in alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a developmental disorder of the lungs classically presenting with pulmonary hypertension and early demise.
|
27145217 |
2016 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
FOXF1 loss of function mutation have been so far identified in alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), a lung disease different from PCH.
|
26462560 |
2015 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic variations considered responsible were detected in six (67%) of the nine infants with ILD: three with hPAP (SFTPC p.Leu45Arg and p.Gln145fs, and ABCA3 p.Arg1583Trp/p.Val1495CysfsX21), two with interstitial pneumonitis (SFTPC p.Lys63Glu and p.Ser72Asn/p.Gly100Ala), and one with ACD/MPV (FOXF1 p.Leu300ArgfsX79).
|
25105258 |
2014 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Similar transcriptional changes were found in lungs of the postnatal day 0.5 Foxf1+/- mice when compared to their wildtype littermate controls; 14 genes, COL15A1, COL18A1, COL6A2, ESM1, FSCN1, GRINA, IGFBP3, IL1B, MALL, NOS3, RASL11B, MATN2, PRKCDBP, and SIRPA, were found common to both ACDMPV and Foxf1 heterozygous lungs.
|
24722050 |
2014 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Point mutations or genomic deletions of FOXF1 result in a lethal developmental lung disease Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
|
25472632 |
2014 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
RNAi-mediated knock-down of LINC01081 in normal fetal lung fibroblasts showed that this lncRNA positively regulates FOXF1 transcript level, further indicating that decrease in LINC01081 expression can contribute to development of ACDMPV.
|
24842713 |
2014 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our results further strengthen the association between FOXF1 and a spectrum of malformations that include ACDMPV, atrioventricular septal defects, and gastrointestinal atresia.
|
23444129 |
2013 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
We identify overlapping deletions 250 kb upstream of FOXF1 in nine patients with ACD/MPV that arose de novo specifically on the maternally inherited chromosome and delete lung-specific lncRNA genes.
|
23034409 |
2013 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human.
|
22990143 |
2013 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
However, FOXF1 transcript level in the ACDMPV peripheral lung tissue was reduced by almost 40%.
|
23943206 |
2013 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.
|
23505205 |
2013 |
|
Persistent Fetal Circulation Syndrome
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.
|
23505205 |
2013 |