New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.
Respiratory distress syndrome (RDS) may occur in term and near-term infants because of mutations in surfactant-related genes. ATP-binding cassette A3 (ABCA3), a phospholipid carrier specifically expressed in the alveolar epithelium, is the most frequently involved protein. We report the case of a couple of late-preterm fraternal twin infants of opposite sex carrying the same compound heterozygous ABCA3 mutations, one of which has never been previously reported, with different disease severity, suggesting variable penetrance or sex-related differences. ABCA3 deficiency should be considered in term or near-term babies who develop unexplained RDS.
Department of Medical and Surgical Neonatology.
Fiammetta
F
Piersigilli
Research Core Laboratory.
Donatella
D
Peca
Department of Medical and Surgical Neonatology.
Francesca
F
Campi
Department of Medical and Surgical Neonatology.
Mirta
M
Corsello
Department of Medical and Surgical Neonatology.
Francesca
F
Landolfo
Electron Microscopy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Renata
R
Boldrini
Department of Medical and Surgical Neonatology.|Division of Neonatology, University of California San Francisco, San Francisco, USA.
Olivier
O
Danhaive
Department of Medical and Surgical Neonatology.
Andrea
A
Dotta
D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D001995:Bronchography; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017563:Lung Diseases, Interstitial / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D046529:Microscopy, Electron, Transmission; D009154:Mutation; D011649:Pulmonary Alveolar Proteinosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D011650:Pulmonary Alveoli / Q000648:ultrastructure; D013902:Radiography, Thoracic; D047929:Term Birth
C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D004247:DNA
ABCA3; neonate; respiratory distress syndrome