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

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DOI: 10.4236/crcm.2015.43021    3,640 Downloads   4,738 Views  

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.

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Eikani, M. , Kalinichenko, V. , Pradhan, A. and Noe, J. (2015) A Novel Mutation in FOXF1 Gene Associated with a Delayed Presentation of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. Case Reports in Clinical Medicine, 4, 97-101. doi: 10.4236/crcm.2015.43021.
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