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

Malý, J
Author Malý, J Faculty of Medicine, Division of Neonatology, Department of Pediatrics, Charles University in Prague, University Hospital at Hradec Králové, Hradec Králové, Czech Republic
Navrátilová, M
Author Navrátilová, M Faculty of Medicine, Division of Neonatology, Department of Pediatrics, Charles University in Prague, University Hospital at Hradec Králové, Hradec Králové, Czech Republic
Hornychová, H
Author Hornychová, H Faculty of Medicine, Fingerland's Department of Pathology, Charles University in Prague, University Hospital at Hradec Králové, Hradec Králové, Czech Republic
Looman, A C
Author Looman, A C Gene Analysis Service GmbH, Berlin, Germany

Journal of perinatology. 2014 Dec ; 34 (12) : 951-3.

J Perinatol
ISSN 1476-5543 | 0743-8346
Source

Language English Country United States Media print

Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't

Persistent link https://www.medvik.cz/link/pmid25421131

PubMed 25421131
DOI 10.1038/jp.2014.132
PII: jp2014132
Knihovny.cz E-resources

MeSH
ATP-Binding Cassette Transporters genetics MeSH
Fatal Outcome MeSH
Genetic Heterogeneity MeSH
Genetic Variation MeSH
Humans MeSH
DNA Mutational Analysis MeSH
Infant, Newborn MeSH
Term Birth MeSH
Respiratory Insufficiency genetics therapy MeSH
High-Frequency Ventilation MeSH
Check Tag
Humans MeSH
Male MeSH
Infant, Newborn MeSH
Publication type
Journal Article MeSH
Case Reports MeSH
Research Support, Non-U.S. Gov't MeSH
Names of Substances
ATP-Binding Cassette Transporters MeSH
ABCA3 protein, human MeSH Browser

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.

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

Faculty of Medicine Fingerland's Department of Pathology Charles University Prague University Hospital at Hradec Králové Hradec Králové Czech Republic

Gene Analysis Service GmbH Berlin Germany

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