A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas

Joana Miranda, Gustavo Rocha, Paulo Soares, Hélder Morgado, Maria João Baptista, Inês Azevedo, Susana Fernandes, Otília Brandão, Partha Sen, Hercília Guimarães

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)241-245
Number of pages5
JournalNeonatology
Volume103
Issue number4
DOIs
StatePublished - May 2013

Keywords

  • Alveolar capillary dysplasia with misalignment of pulmonary veins
  • Extracorporeal membrane oxygenation FOXF1
  • Persistent pulmonary hypertension of the newborn

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Biology

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