Haertel, Christoph and Felderhoff-Mueser, Ursula and Gebauer, Corinna and Hoehn, Thomas and Kribs, Angela and Laux, Reinhard and Moeller, Jens and Segerer, Hugo and Teig, Norbert and von der Wense, Axel and Wieg, Christian and Stichtenoth, Guido and Herting, Egbert and Goepel, Wolfgang (2012) ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants. ACTA PAEDIATRICA, 101 (4). pp. 380-383. ISSN 0803-5253,
Full text not available from this repository. (Request a copy)Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | RESPIRATORY-DISTRESS-SYNDROME; ABCA3 MUTATIONS; LUNG-DISEASE; SURFACTANT DEFICIENCY; PRETERM INFANTS; SUSCEPTIBILITY; NEWBORNS; CPAP; ATP-binding cassette member A3 (E292V) gene mutation; Pulmonary morbidity; Very-low-birth-weight infants |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Kinder- und Jugendmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 May 2020 07:47 |
| Last Modified: | 15 May 2020 07:47 |
| URI: | https://pred.uni-regensburg.de/id/eprint/18993 |
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