A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene
The mutations in the ABCA3 (ATP-binding cassette transporter subfamily A member 3) gene could result in lethal respiratory distress syndrome (RDS) in neonates and interstitial lung disease (ILD) in infants and children. Here, we describe a full-term newborn who manifested respiratory distress 20 min...
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Frontiers Media S.A.,
2020-04-01T00:00:00Z.
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|---|---|---|---|
| 001 | doaj_4d066115416b44e3a70607f8bcc3b47f | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Meili Wei |e author |
| 700 | 1 | 0 | |a Haibo Fu |e author |
| 700 | 1 | 0 | |a Aiqin Han |e author |
| 700 | 1 | 0 | |a Liji Ma |e author |
| 245 | 0 | 0 | |a A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene |
| 260 | |b Frontiers Media S.A., |c 2020-04-01T00:00:00Z. | ||
| 500 | |a 2296-2360 | ||
| 500 | |a 10.3389/fped.2020.00138 | ||
| 520 | |a The mutations in the ABCA3 (ATP-binding cassette transporter subfamily A member 3) gene could result in lethal respiratory distress syndrome (RDS) in neonates and interstitial lung disease (ILD) in infants and children. Here, we describe a full-term newborn who manifested respiratory distress 20 min after birth and then gradually developed hypoxemic respiratory failure and died on 53 days of life. A homozygous missense mutation (c.746C >T) was identified in exon 8 of ABCA3 gene in the neonate by next-generation sequencing, and the mutations were inherited from parents, respectively. This homozygous mutation is the first reported to date. | ||
| 546 | |a EN | ||
| 690 | |a full-term neonate | ||
| 690 | |a ABCA3 gene | ||
| 690 | |a pulmonary surfactant | ||
| 690 | |a interstitial lung diseases | ||
| 690 | |a lethal respiratory distress syndrome | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Frontiers in Pediatrics, Vol 8 (2020) | |
| 787 | 0 | |n https://www.frontiersin.org/article/10.3389/fped.2020.00138/full | |
| 787 | 0 | |n https://doaj.org/toc/2296-2360 | |
| 856 | 4 | 1 | |u https://doaj.org/article/4d066115416b44e3a70607f8bcc3b47f |z Connect to this object online. |