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
Fecha de publicación
2017ISSN
1059-7794
Resumen
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.
Tipo de documento
Artículo
Versión del documento
Versión publicada
Lengua
Inglés
Materias (CDU)
61 - Medicina
Palabras clave
Displàsia capil·lar alveolar
FOXM1
Metilació
Displasia capilar alveolar
FOXM1
displasia capilar alveolar
Metilación
Páginas
5
Publicado por
Wiley
Colección
38;6
Publicado en
Human Mutation
Citación
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
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Derechos
© 2017 Wiley Periodicals, Inc.