• Christoph Härtel, Ursula Felderhoff-Müser, Corinna Gebauer, Thomas Hoehn, Angela Kribs, Reinhard Laux, Jens Möller, Hugo Segerer, Norbert Teig, Axel von der Wense, Christian Wieg, Guido Stichtenoth, Egbert Herting, Wolfgang Göpel, and German Neonatal Network (GNN).
• Department of Pediatrics, University at Lübeck, Lübeck, Germany. haertel@paedia.ukl.mu-luebeck.de
• Acta Paediatr. 2012 Apr 1;101(4):380-3.

AimATP-binding cassette member A 3 (ABCA3) plays a critical role for the transport of surfactant phospholipids into the lamellar bodies of type II alveolar epithelial cells. Term infants carrying the E292V missense mutation of the gene encoding ABCA3 are likely to develop respiratory distress syndrome, and the mutation has also been linked to interstitial lung disease in paediatric patients. The aim of this study was to investigate the association of the E292V genotype with pulmonary morbidity in a large cohort of very-low-birth-weight (VLBW) infants.MethodsWe performed a genetic association study with a prospective, population-based multi-centre cohort of 3177 VLBW infants born in 16 German study centres between 2003 and 2009 (German Neonatal Network). The ABCA3 genotype was determined by restriction fragment length polymorphism-PCR in genomic DNA samples derived from buccal swabs.ResultsIn a large cohort of 3177 VLBW infants, 11 individuals were found to be heterozygote for the E292V mutation (0.34%). After stratification according to ABCA3 genotype, no differences were noted for clinical characteristics, necessary treatments and neonatal pulmonary outcomes.ConclusionsWithin the size limits of our study cohort, the ABCA3 missense mutation E292V had no remarkable effect on pulmonary outcome in VLBW infants. Present results do not rule out the possibility that E292V phenotype is associated with minor difference in the morbidity.© 2011 The Author(s)/Acta Paediatrica © 2011 Foundation Acta Paediatrica.

26 keywords...

hide…