title: A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas.
abstract: 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 FOXF1. FOXF1 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 FOXF1, in a patient with ACD/MPV associated with annular pancreas and intestinal malrotation.
authors: Division of Neonatology, Centro Hospitalar de São João, Faculty of Medicine of Porto University, Porto, Portugal. joanam@gmail.com
authors: Joana
authors: J
authors: Miranda
authors: Gustavo
authors: G
authors: Rocha
authors: Paulo
authors: P
authors: Soares
authors: Hélder
authors: H
authors: Morgado
authors: Maria João
authors: MJ
authors: Baptista
authors: Inês
authors: I
authors: Azevedo
authors: Susana
authors: S
authors: Fernandes
authors: Otília
authors: O
authors: Brandão
authors: Partha
authors: P
authors: Sen
authors: Hercília
authors: H
authors: Guimarães
mesh_terms: D000015:Abnormalities, Multiple; D001344:Autopsy; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004065:Digestive System Abnormalities; D005091:Exons; D017809:Fatal Outcome; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D045822:Intestinal Volvulus / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008168:Lung / Q000473:pathology; D010179:Pancreas / Q000002:abnormalities*; D010182:Pancreatic Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010547:Persistent Fetal Circulation Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D011650:Pulmonary Alveoli / Q000002:abnormalities*
chemical_list: D018389:Codon, Nonsense; C098521:FOXF1 protein, human; D051858:Forkhead Transcription Factors