Document Detail

ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants.
MedLine Citation:
PMID:  22145626     Owner:  NLM     Status:  Publisher    
Rationale:  ATP-binding cassette member A 3 (ABCA 3) 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 pediatric 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. Methods:  We performed a genetic association study with a prospective, population-based multi-center cohort of 3177 VLBW infants born in 16 German study centers between 2003-2009 (German Neonatal Network). The ABCA3 genotype was determined by restriction-fragment-length-polymorphism PCR in genomic DNA samples derived from buccal swabs. Results:  In 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. Conclusions:  Within 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.
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;
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-12-6
Journal Detail:
Title:  Acta paediatrica (Oslo, Norway : 1992)     Volume:  -     ISSN:  1651-2227     ISO Abbreviation:  -     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2011-12-7     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9205968     Medline TA:  Acta Paediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Acta Paediatrica © 2011 Foundation Acta Paediatrica.
From the Department of Pediatrics of the University at Lübeck Department of Pediatrics at University of Essen Leipzig Düsseldorf Cologne Bochum Children's Hospitals Hamburg-Barmbek Saarbrücken St. Hedwig, Regensburg Hamburg-Altona Aschaffenburg.
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