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.
Highlights
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a fatal pulmonary disease that usually presents in the neonatal period with severe hypoxemia and persistent pulmonary hypertension un
The authors report a clinical case of a term newborn with delayed presentation of ACD/MPV and a novel mutation of forkhead box F1 (FOXF1) gene
Arginine 86 is located in FOXF1 DNA-binding domain (Figure 3(b)), which is frequently mutated in ACD/MPV patients [3]
Summary
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a fatal pulmonary disease that usually presents in the neonatal period with severe hypoxemia and persistent pulmonary hypertension un-. (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. ACD/MPV is a rare disorder with an unknown incidence and the pathophysiology remains incompletely understood. The genetic etiology of ACD/MPV has remained elusive for decades [1]. Microdeletions or point mutations in/or upstream to the forkhead box F1 (FOXF1) gene on chromosome 16q24.1 are responsible for 40% of the reported cases [2]. The authors report a clinical case of a term newborn with delayed presentation of ACD/MPV and a novel mutation of FOXF1 gene. Sequence analysis of FOXF1 gene identified a novel heterozygous variant c.257G > C; p.R86P, in exon 1
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