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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Detalles Bibliográficos
Autores principales: Wei, Meili, Fu, Haibo, Han, Aiqin, Ma, Liji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181334/
https://www.ncbi.nlm.nih.gov/pubmed/32363169
http://dx.doi.org/10.3389/fped.2020.00138
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author Wei, Meili
Fu, Haibo
Han, Aiqin
Ma, Liji
author_facet Wei, Meili
Fu, Haibo
Han, Aiqin
Ma, Liji
author_sort Wei, Meili
collection PubMed
description 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.
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spelling pubmed-71813342020-05-01 A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene Wei, Meili Fu, Haibo Han, Aiqin Ma, Liji Front Pediatr Pediatrics 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. Frontiers Media S.A. 2020-04-17 /pmc/articles/PMC7181334/ /pubmed/32363169 http://dx.doi.org/10.3389/fped.2020.00138 Text en Copyright © 2020 Wei, Fu, Han and Ma. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Wei, Meili
Fu, Haibo
Han, Aiqin
Ma, Liji
A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene
title A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene
title_full A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene
title_fullStr A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene
title_full_unstemmed A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene
title_short A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene
title_sort term neonatal case with lethal respiratory failure associated with a novel homozygous mutation in abca3 gene
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181334/
https://www.ncbi.nlm.nih.gov/pubmed/32363169
http://dx.doi.org/10.3389/fped.2020.00138
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