Unexplained neonatal respiratory distress due to congenital surfactant deficiency.
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).
Somaschini
Marco
M
Division of Neonatology, Bolognini Hospital, Seriate, Italy. marco.somaschini@bolognini.bg.it
Nogee
Lawrence M
LM
Sassi
Isabella
I
Danhaive
Olivier
O
Presi
Silvia
S
Boldrini
Renata
R
Montrasio
Cristina
C
Ferrari
Maurizio
M
Wert
Susan E
SE
Carrera
Paola
P
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
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