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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant

Journal of Perinatology volume 34, pages 951–953 (2014)Cite this article

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Abstract

Inherited disorders of surfactant metabolism are manifested in neonatal period as a severe respiratory failure not responding to exogenous surfactant administration. We illustrate the case of a term newborn with respiratory failure because of compound heterozygous mutation in adenosine triphosphate-binding cassette transporter A3 (ABCA3)—in exon 24 M1227R and in exon 29 Ins1510fs/ter1519. These mutations of ABCA3 have not been described yet and expand the group of lethal ABCA3 variants.

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Acknowledgements

We thank Professor Lawrence Nogee from Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA, for the help in interpreting the results of DNA analysis. This study was supported by PRVOUK programme P37/12.

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Authors and Affiliations

  1. Division of Neonatology, Department of Pediatrics, Faculty of Medicine, Charles University in Prague, University Hospital at Hradec Králové, Hradec Králové, Czech Republic

    J Malý & M Navrátilová

  2. Fingerland’s Department of Pathology, Faculty of Medicine, Charles University in Prague, University Hospital at Hradec Králové, Hradec Králové, Czech Republic

    H Hornychová

  3. Gene Analysis Service GmbH, Berlin, Germany

    A C Looman

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  1. J Malý
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  2. M Navrátilová
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  4. A C Looman
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Correspondence to J Malý.

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Malý, J., Navrátilová, M., Hornychová, H. et al. Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant. J Perinatol 34, 951–953 (2014). https://doi.org/10.1038/jp.2014.132

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  • DOI: https://doi.org/10.1038/jp.2014.132

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