Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted human mutation
Autor/a
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
Data de publicació
2017ISSN
1059-7794
Resum
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.
Tipus de document
Article
Versió del document
Versió publicada
Llengua
Anglès
Matèries (CDU)
61 - Medicina
Paraules clau
Displàsia capil·lar alveolar
FOXM1
Metilació
Displasia capilar alveolar
FOXM1
displasia capilar alveolar
Metilación
Pàgines
5
Publicat per
Wiley
Col·lecció
38;6
Publicat a
Human Mutation
Citació
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
Aquest element apareix en la col·lecció o col·leccions següent(s)
- Ciències de la Salut [732]
Drets
© 2017 Wiley Periodicals, Inc.