Maternal mutations ofFOXF1cause alveolar capillary dysplasia despite not being imprinted
| Autor: | Gudrun E. Moore, Miho Ishida, Miguel Alsina Casanova, Julio Moreno Hernando, Franck Court, Ana Monteagudo-Sánchez, Luciana Rodiguez Guerineau, Elisenda Moliner Calderon, David Monk, Carlota Rovira Zurriaga, M. Castañón, Loreto Martorell, Isabel Gazquez Serrano |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Alveolar capillary dysplasia Genetics Non-Mendelian inheritance Point mutation Parenteral transmission Methylation Biology medicine.disease Molecular biology 03 medical and health sciences 030104 developmental biology 0302 clinical medicine DNA methylation medicine Allele Genomic imprinting 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | Human Mutation. 38:615-620 |
| ISSN: | 1059-7794 |
| DOI: | 10.1002/humu.23213 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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