New ATP‐binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3
Identifieur interne : 000F37 ( Main/Exploration ); précédent : 000F36; suivant : 000F38New ATP‐binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3
Auteurs : Fiammetta Piersigilli [États-Unis] ; Donatella Peca ; Francesca Campi ; Mirta Corsello ; Francesca Landolfo ; Renata Boldrini [Italie] ; Olivier Danhaive [États-Unis] ; Andrea DottaSource :
- Pediatrics International [ 1328-8067 ] ; 2015-10.
Abstract
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.
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DOI: 10.1111/ped.12673
Affiliations:
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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.</div></front></TEI><affiliations><list><country><li>Italie</li><li>États-Unis</li></country><region><li>Californie</li><li>Latium</li></region><settlement><li>Rome</li><li>San Francisco</li></settlement></list><tree><noCountry><name sortKey="Campi, Francesca" sort="Campi, Francesca" uniqKey="Campi F" first="Francesca" last="Campi">Francesca Campi</name><name sortKey="Corsello, Mirta" sort="Corsello, Mirta" uniqKey="Corsello M" first="Mirta" last="Corsello">Mirta Corsello</name><name sortKey="Dotta, Andrea" sort="Dotta, Andrea" uniqKey="Dotta A" first="Andrea" last="Dotta">Andrea Dotta</name><name sortKey="Landolfo, Francesca" sort="Landolfo, Francesca" uniqKey="Landolfo F" first="Francesca" last="Landolfo">Francesca Landolfo</name><name sortKey="Peca, Donatella" sort="Peca, Donatella" uniqKey="Peca D" first="Donatella" last="Peca">Donatella Peca</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Piersigilli, Fiammetta" sort="Piersigilli, Fiammetta" uniqKey="Piersigilli F" first="Fiammetta" last="Piersigilli">Fiammetta Piersigilli</name></noRegion><name sortKey="Danhaive, Olivier" sort="Danhaive, Olivier" uniqKey="Danhaive O" first="Olivier" last="Danhaive">Olivier Danhaive</name><name sortKey="Piersigilli, Fiammetta" sort="Piersigilli, Fiammetta" uniqKey="Piersigilli F" first="Fiammetta" last="Piersigilli">Fiammetta Piersigilli</name></country><country name="Italie"><region name="Latium"><name sortKey="Boldrini, Renata" sort="Boldrini, Renata" uniqKey="Boldrini R" first="Renata" last="Boldrini">Renata Boldrini</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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