A Novel Mutation in <b><i>FOXF1</i></b> Gene Associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins, Intestinal Malrotation and Annular Pancreas
Copyright policy )A Novel Mutation in <b><i>FOXF1</i></b> Gene Associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins, Intestinal Malrotation and Annular Pancreas
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, fatal, neonatal developmental lung disorder, which usually presents as persistent pulmonary hypertension unresponsive to treatment. The authors report the case of a neonate with persistent pulmonary hypertension, associated with duodenal stenosis secondary to annular pancreas and intestinal malrotation. Support treatment, inhaled nitric oxide, oral sildenafil and nebulized iloprost were used with no clinical improvement. The neonate presented an overwhelming course, with hypoxemia refractory to treatment. At autopsy lung histology showed the characteristic features of ACD/MPV. DNA sequence analysis revealed a heterozygous nonsense mutation c.539C>A;p.S180X, in the first exon of <i>FOXF1</i>. <i>FOXF1 </i>has been identified as one of the genes responsible for ACD/MPV associated with multiple congenital malformations. This clinical case is the first report of a heterozygous nonsense mutation c.539C>A;p.S180X in the first exon of <i>FOXF1</i>, in a patient with ACD/MPV associated with annular pancreas and intestinal malrotation.
- Baylor College of Medicine United States
- Universidade Lusófona do Porto Portugal
- Hospital de São João Portugal
Heterozygote, DNA Mutational Analysis, Infant, Newborn, Pancreatic Diseases, Forkhead Transcription Factors, Exons, Persistent Fetal Circulation Syndrome, Pulmonary Alveoli, Fatal Outcome, Phenotype, Codon, Nonsense, Humans, Abnormalities, Multiple, Female, Genetic Predisposition to Disease, Autopsy, Digestive System Abnormalities, Lung, Pancreas, Intestinal Volvulus
Heterozygote, DNA Mutational Analysis, Infant, Newborn, Pancreatic Diseases, Forkhead Transcription Factors, Exons, Persistent Fetal Circulation Syndrome, Pulmonary Alveoli, Fatal Outcome, Phenotype, Codon, Nonsense, Humans, Abnormalities, Multiple, Female, Genetic Predisposition to Disease, Autopsy, Digestive System Abnormalities, Lung, Pancreas, Intestinal Volvulus
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