title: Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.
abstract: We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.
authors.affiliation: Pediatric Department, Braga Hospital, Braga, Portugal; Community Health, School of Health Sciences, University of Minho, Portugal. Electronic address: pierre_3.14r@hotmail.com.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Gonçalves
authors.affiliation: Neonatology, Braga Hospital, Braga, Portugal.
authors.forename: Liliana
authors.initials: L
authors.lastname: Pinheiro
authors.affiliation: Neonatology, Braga Hospital, Braga, Portugal.
authors.forename: Miguel
authors.initials: M
authors.lastname: Costa
authors.affiliation: Neonatology, Braga Hospital, Braga, Portugal.
authors.forename: Albina
authors.initials: A
authors.lastname: Silva
authors.affiliation: Pediatric Department, Braga Hospital, Braga, Portugal.
authors.forename: Augusta
authors.initials: A
authors.lastname: Gonçalves
authors.affiliation: Neonatology, Braga Hospital, Braga, Portugal.
authors.forename: Almerinda
authors.initials: A
authors.lastname: Pereira
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000172:deficiency / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters
keywords: ABCA3; ATP-binding cassette A3 transporter; BAL; CT; DIP; LB; NBD; NKX2-1; RDS; Respiratory distress; SFTPB; SFTPC; Surfactant; broncho-alveolar lavage; computed tomography; desquamative interstitial pneumonitis; lamellar bodies; nucleotide binding domain; respiratory distress syndrome; surfactant protein-B; surfactant protein-C; thyroid transcription factor-1