Premium
ATP‐binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very‐low‐birth‐weight infants
Author(s) -
Härtel Christoph,
FelderhoffMüser Ursula,
Gebauer Corinna,
Hoehn Thomas,
Kribs Angela,
Laux Reinhard,
Möller Jens,
Segerer Hugo,
Teig Norbert,
von der Wense Axel,
Wieg Christian,
Stichtenoth Guido,
Herting Egbert,
Göpel Wolfgang
Publication year - 2012
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2011.02553.x
Subject(s) - medicine , missense mutation , nonsense mutation , genotype , buccal swab , pediatrics , cohort , prospective cohort study , interstitial lung disease , respiratory distress , population , mutation , lung , genetics , gene , surgery , biology , environmental health
Aim: ATP‐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. Methods: We 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. 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.