A Novel Mutation in FOXF1 Gene Associated with a Delayed Presentation of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Maxine S. Eikani¹, Vladimir V. Kalinichenko², Arun Pradhan², Julie Noe¹

¹Department of Pediatric Pulmonary and Sleep Medicine, Medical College of Wisconsin, Milwaukee, USA.
²Division of Pulmonary Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, USA.

DOI: 10.4236/crcm.2015.43021                

Abstract

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, fatal developmental lung disorder of neonates and infants, associated with severe persistent pulmonary hypertension unresponsive to treatment. We reported the case of a term newborn with delayed presentation of ACD/MPV and a novel mutation of FOXF1 gene that received supportive cardiopulmonary treatments, inhaled nitric oxide, oral sildenafil and nebulized iloprost with no clinical improvement. DNA sequence analysis of FOXF1 gene identified a novel heterozygous variant c.257G > C; p.R86P, in exon 1. At autopsy, lung histology showed the characteristic features of ACD/MPV. FOXF1 has been identified as one of the genes responsible for ACD/MPV associated with multiple congenital malformations. This is a report of a novel heterozygous variant c.257G > C; p.R86P, in the first exon of FOXF1, in a patient with delayed presentation of ACD/MPV.

Keywords

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins, Persistent Pulmonary Hypertension, FOXF1

Conflicts of Interest

The authors declare no conflicts of interest.

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