Article
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.
Human mutation - 1 Jun 2017
Alsina Casanova Miguel, Monteagudo-Sánchez Ana, Rodiguez 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
Abstract excerpt
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...
Topics
- Comparative Genomic Hybridization
- DNA Methylation
- Female
- Forkhead Transcription Factors
- Genomic Imprinting
- Humans
- Hypertension, Pulmonary
- Infant, Newborn
- Maternal Inheritance