A Novel Mutation in FOXF1 Gene Associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins, Intestinal Malrotation and Annular Pancreas

• Type: Article in International Scientific Journal
• Date: 2013

Authors

Joana Miranda (Author) Other; Rocha, G (Author) Other; Soares, P (Author) Other; Morgado, H (Author) Other; Baptista, MJ (Author) FMUP; Inês Azevedo (Author) FMUP; Fernandes, S (Author) Other; Brandao, O (Author) Other; Sen, P (Author) Other; Guimarães H (Author) FMUP

Journal

Title: Neonatology

Vol. 103

Pages: 241-245

ISSN: 1661-7800

Publisher: Karger

Indexing

ISI Web of Knowledge - 5 Citations

Scopus - 11 Citations

Other information

Authenticus ID: P-005-38N

DOI: 10.1159/000346062

Abstract (EN): 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. Copyright (C) 2013 S. Karger AG, Basel

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5