Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted human mutation
Author
Alsina Casanova, Miguel
Monteagudo-Sánchez, Ana
Rodriguez Guerineau, Luciana
Court, Franck
Gazquez Serrano, Isabel
Martorell, Loreto
Rovira Zurriaga, Carlota
Moore, Gudrun E.
Ishida, Miho
Castañon, Montserrat
Moliner Calderon, Elisenda
Monk, David
Moreno Hernando, Julio
Publication date
2017ISSN
1059-7794
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.
Document Type
Article
Document version
Published version
Language
English
Subject (CDU)
61 - Medical sciences
Keywords
Displàsia capil·lar alveolar
FOXM1
Metilació
Displasia capilar alveolar
FOXM1
displasia capilar alveolar
Metilación
Pages
5
Publisher
Wiley
Collection
38;6
Is part of
Human Mutation
Citation
Alsina Casanova, Miguel; Monteagudo-Sánchez, Ana; Rodriguez Guerineau, Luciana [et al.]. Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted. Human Mutation, 2017, 38, p. 615–620. Disponible en: <https://onlinelibrary.wiley.com/doi/10.1002/humu.23213>. Fecha de acceso: 7 feb. 2024. DOI: 10.1002/humu.23213
This item appears in the following Collection(s)
- Ciències de la Salut [732]
Rights
© 2017 Wiley Periodicals, Inc.