Casanova, MA;
Monteagudo-Sánchez, A;
Guerineau, LR;
Court, F;
Serrano, IG;
Martorell, L;
Zurriaga, CR;
... Hernando, JM; + view all
(2017)
Maternal mutations of FOXF1 cause Alveolar capillary dysplasia despite not being imprinted.
Human Mutation
, 38
(6)
pp. 615-620.
10.1002/humu.23213.
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Abstract
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare cause of pulmonary hypertension in newborns. Maternally inherited point mutations in Forkhead Box F1 gene (FOXF1), deletions of the gene or its long-range enhancers on the maternal allele are responsible for this neonatal lethal disorder. Here we describe monozygotic twins and one full-term newborn with ACD and gastrointestinal malformations caused by de novo mutations of FOXF1 on the maternal inherited alleles. Since this parental transmission is consistent with genomic imprinting, the parent-of-origin specific monoallelic expression of genes, we have undertaken a detailed analysis of both allelic expression and DNA methylation. FOXF1 and its neighboring gene FENDRR were both biallelically expressed in a wide range of fetal tissues, including lung and intestine. Furthermore detailed methylation screening within the 16q24.1 regions failed to identify regions of allelic methylation, suggesting that disrupted imprinting is not responsible for ACDMPV.
| Type: | Article |
|---|---|
| Title: | Maternal mutations of FOXF1 cause Alveolar capillary dysplasia despite not being imprinted |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/humu.23213 |
| Publisher version: | http://doi.org/10.1002/humu.23213 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Alveolar capillary dysplasia, FOXF1, imprinting, methylation |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1544880 |
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