title: Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant.
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.
authors.affiliation: Faculty of Medicine, Division of Neonatology, Department of Pediatrics, Charles University in Prague, University Hospital at Hradec Králové, Hradec Králové, Czech Republic.
authors.forename: J
authors.initials: J
authors.lastname: Malý
authors.affiliation: Faculty of Medicine, Division of Neonatology, Department of Pediatrics, Charles University in Prague, University Hospital at Hradec Králové, Hradec Králové, Czech Republic.
authors.forename: M
authors.initials: M
authors.lastname: Navrátilová
authors.affiliation: Faculty of Medicine, Fingerland's Department of Pathology, Charles University in Prague, University Hospital at Hradec Králové, Hradec Králové, Czech Republic.
authors.forename: H
authors.initials: H
authors.lastname: Hornychová
authors.affiliation: Gene Analysis Service GmbH, Berlin, Germany.
authors.forename: A C
authors.initials: AC
authors.lastname: Looman
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D018740:Genetic Heterogeneity; D014644:Genetic Variation; D006612:High-Frequency Ventilation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012131:Respiratory Insufficiency / Q000235:genetics* / Q000628:therapy; D047929:Term Birth
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters