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A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome

Mutations in adenosine triphosphate-binding cassette transporter A3 (ABCA3) (OMIM: 601615) gene constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome (RDS) and interstitial lung disease (ILD) in children. Interstitial lung disease in children and especially in i...

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Autores principales: Mitsiakos, Georgios, Tsakalidis, Christos, Karagianni, Paraskevi, Gialamprinou, Dimitra, Chatziioannidis, Ilias, Papoulidis, Ioannis, Tsanakas, Ioannis, Soubasi, Vasiliki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681327/
https://www.ncbi.nlm.nih.gov/pubmed/31331098
http://dx.doi.org/10.3390/medicina55070389
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author Mitsiakos, Georgios
Tsakalidis, Christos
Karagianni, Paraskevi
Gialamprinou, Dimitra
Chatziioannidis, Ilias
Papoulidis, Ioannis
Tsanakas, Ioannis
Soubasi, Vasiliki
author_facet Mitsiakos, Georgios
Tsakalidis, Christos
Karagianni, Paraskevi
Gialamprinou, Dimitra
Chatziioannidis, Ilias
Papoulidis, Ioannis
Tsanakas, Ioannis
Soubasi, Vasiliki
author_sort Mitsiakos, Georgios
collection PubMed
description Mutations in adenosine triphosphate-binding cassette transporter A3 (ABCA3) (OMIM: 601615) gene constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome (RDS) and interstitial lung disease (ILD) in children. Interstitial lung disease in children and especially in infants, in contrast to adults, is more likely to appear as a result of developmental deficits or is characterized by genetic aberrations of pulmonary surfactant homeostasis not responding to exogenous surfactant administration. The underlying ABCA3 gene mutations are commonly thought, regarding null mutations, to determine the clinical course of the disease while there exist mutation types, especially missense variants, whose effects on surfactant proteins are difficult to predict. In addition, clinical and radiological signs overlap with those of surfactant proteins B and C mutations making diagnosis challenging. We demonstrate a case of a one-term newborn male with lethal respiratory failure caused by homozygous missense ABCA3 gene mutation c.3445G>A (p.Asp1149Asn), which, to our knowledge, was not previously reported as a causative agent of newborn lethal RDS. Therapeutic strategies for patients with ABCA3 gene mutations are not sufficiently evidence-based. Therefore, the description of the clinical course and treatment of the disease in terms of a likely correlation between genotype and phenotype is crucial for the development of the optimal clinical approach for affected individuals.
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spelling pubmed-66813272019-08-09 A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome Mitsiakos, Georgios Tsakalidis, Christos Karagianni, Paraskevi Gialamprinou, Dimitra Chatziioannidis, Ilias Papoulidis, Ioannis Tsanakas, Ioannis Soubasi, Vasiliki Medicina (Kaunas) Case Report Mutations in adenosine triphosphate-binding cassette transporter A3 (ABCA3) (OMIM: 601615) gene constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome (RDS) and interstitial lung disease (ILD) in children. Interstitial lung disease in children and especially in infants, in contrast to adults, is more likely to appear as a result of developmental deficits or is characterized by genetic aberrations of pulmonary surfactant homeostasis not responding to exogenous surfactant administration. The underlying ABCA3 gene mutations are commonly thought, regarding null mutations, to determine the clinical course of the disease while there exist mutation types, especially missense variants, whose effects on surfactant proteins are difficult to predict. In addition, clinical and radiological signs overlap with those of surfactant proteins B and C mutations making diagnosis challenging. We demonstrate a case of a one-term newborn male with lethal respiratory failure caused by homozygous missense ABCA3 gene mutation c.3445G>A (p.Asp1149Asn), which, to our knowledge, was not previously reported as a causative agent of newborn lethal RDS. Therapeutic strategies for patients with ABCA3 gene mutations are not sufficiently evidence-based. Therefore, the description of the clinical course and treatment of the disease in terms of a likely correlation between genotype and phenotype is crucial for the development of the optimal clinical approach for affected individuals. MDPI 2019-07-19 /pmc/articles/PMC6681327/ /pubmed/31331098 http://dx.doi.org/10.3390/medicina55070389 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Mitsiakos, Georgios
Tsakalidis, Christos
Karagianni, Paraskevi
Gialamprinou, Dimitra
Chatziioannidis, Ilias
Papoulidis, Ioannis
Tsanakas, Ioannis
Soubasi, Vasiliki
A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome
title A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome
title_full A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome
title_fullStr A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome
title_full_unstemmed A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome
title_short A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome
title_sort new abca3 gene mutation c.3445g>a (p.asp1149asn) as a causative agent of newborn lethal respiratory distress syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681327/
https://www.ncbi.nlm.nih.gov/pubmed/31331098
http://dx.doi.org/10.3390/medicina55070389
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