title: Unexplained neonatal respiratory distress due to congenital surfactant deficiency.
abstract: Genetic abnormalities of pulmonary surfactant were identified by DNA sequence analysis in 14 (12 full-term, 2 preterm) of 17 newborn infants with fatal respiratory distress of unknown etiology. Deficiency of adenosine triphosphate-binding cassette protein, member A3 (n = 12) was a more frequent cause of this phenotype than deficiency of surfactant protein B (n = 2).
authors.affiliation: Division of Neonatology, Bolognini Hospital, Seriate, Italy. marco.somaschini@bolognini.bg.it
authors.forename: Marco
authors.initials: M
authors.lastname: Somaschini
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nogee
authors.forename: Isabella
authors.initials: I
authors.lastname: Sassi
authors.forename: Olivier
authors.initials: O
authors.lastname: Danhaive
authors.forename: Silvia
authors.initials: S
authors.lastname: Presi
authors.forename: Renata
authors.initials: R
authors.lastname: Boldrini
authors.forename: Cristina
authors.initials: C
authors.lastname: Montrasio
authors.forename: Maurizio
authors.initials: M
authors.lastname: Ferrari
authors.forename: Susan E
authors.initials: SE
authors.lastname: Wert
authors.forename: Paola
authors.initials: P
authors.lastname: Carrera
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001724:Birth Weight; D005260:Female; D005865:Gestational Age; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008168:Lung / Q000000981:diagnostic imaging; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D037701:Pulmonary Surfactant-Associated Protein B / Q000235:genetics* / Q000378:metabolism; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*; D011663:Pulmonary Surfactants; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014463:Ultrasonography
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D037701:Pulmonary Surfactant-Associated Protein B; D037721:Pulmonary Surfactant-Associated Protein C; D011663:Pulmonary Surfactants; C489679:SFTPC protein, human