title: Respiratory failure in a term infant with cis and trans mutations in ABCA3.
abstract: A full-term female neonate presented with persistent respiratory failure and radiologic studies consistent with surfactant deficiency. Sequencing of the ATP-binding cassette transporter A3 gene (ABCA3) revealed three mutations: R280C, V1399M and Q1589X. The infant underwent bilateral lung transplantation at 9 months of age and is alive at 3 years of age. Parental sequencing demonstrated that two of the mutations (R280C and Q1589X) were oriented on the same allele (cis), whereas V1399M was oriented on the opposite allele (trans). As more than one mutation in ABCA3 can be present on the same allele, parental studies are needed to determine allelic orientation to inform clinical decision making and future reproductive counseling.
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: T
authors.initials: T
authors.lastname: Jackson
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: D J
authors.initials: DJ
authors.lastname: Wegner
authors.affiliation: Department of Pathology, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: F V
authors.initials: FV
authors.lastname: White
authors.affiliation: Department of Pediatrics, Northwestern University School of Medicine, Chicago, IL, USA.
authors.forename: A
authors.initials: A
authors.lastname: Hamvas
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: F S
authors.initials: FS
authors.lastname: Cole
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.
authors.forename: J A
authors.initials: JA
authors.lastname: Wambach
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016040:Lung Transplantation; D009154:Mutation; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000235:genetics*; D047929:Term Birth
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters