A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome.
Identifieur interne : 000075 ( PubMed/Checkpoint ); précédent : 000074; suivant : 000076A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome.
Auteurs : Georgios Mitsiakos [Grèce] ; Christos Tsakalidis [Grèce] ; Paraskevi Karagianni [Grèce] ; Dimitra Gialamprinou [Grèce] ; Ilias Chatziioannidis [Grèce] ; Ioannis Papoulidis [Grèce] ; Ioannis Tsanakas [Grèce] ; Vasiliki Soubasi [Grèce]Source :
- Medicina (Kaunas, Lithuania) [ 1648-9144 ] ; 2019.
Descripteurs français
- KwdFr :
- Azithromycine (usage thérapeutique), Hormones corticosurrénaliennes (usage thérapeutique), Humains, Hydroxychloroquine (usage thérapeutique), Mutation (génétique), Mâle, Nouveau-né, Pneumopathies interstitielles (génétique), Surfactants pulmonaires (antagonistes et inhibiteurs), Syndrome de détresse respiratoire du nouveau-né (génétique), Syndrome de détresse respiratoire du nouveau-né (imagerie diagnostique), Syndrome de détresse respiratoire du nouveau-né (étiologie), Tomodensitométrie (), Transporteurs ABC (effets indésirables), Transporteurs ABC (génétique).
- MESH :
- antagonistes et inhibiteurs : Surfactants pulmonaires.
- effets indésirables : Transporteurs ABC.
- génétique : Mutation, Pneumopathies interstitielles, Syndrome de détresse respiratoire du nouveau-né, Transporteurs ABC.
- imagerie diagnostique : Syndrome de détresse respiratoire du nouveau-né.
- usage thérapeutique : Azithromycine, Hormones corticosurrénaliennes, Hydroxychloroquine.
- étiologie : Syndrome de détresse respiratoire du nouveau-né.
- Humains, Mâle, Nouveau-né, Tomodensitométrie.
English descriptors
- KwdEn :
- ATP-Binding Cassette Transporters (adverse effects), ATP-Binding Cassette Transporters (genetics), Adrenal Cortex Hormones (therapeutic use), Azithromycin (therapeutic use), Humans, Hydroxychloroquine (therapeutic use), Infant, Newborn, Lung Diseases, Interstitial (genetics), Male, Mutation (genetics), Pulmonary Surfactants (antagonists & inhibitors), Respiratory Distress Syndrome, Newborn (diagnostic imaging), Respiratory Distress Syndrome, Newborn (etiology), Respiratory Distress Syndrome, Newborn (genetics), Tomography, X-Ray Computed (methods).
- MESH :
- chemical , adverse effects : ATP-Binding Cassette Transporters.
- chemical , antagonists & inhibitors : Pulmonary Surfactants.
- chemical , genetics : ATP-Binding Cassette Transporters.
- chemical , therapeutic use : Adrenal Cortex Hormones, Azithromycin, Hydroxychloroquine.
- diagnostic imaging : Respiratory Distress Syndrome, Newborn.
- etiology : Respiratory Distress Syndrome, Newborn.
- genetics : Lung Diseases, Interstitial, Mutation, Respiratory Distress Syndrome, Newborn.
- methods : Tomography, X-Ray Computed.
- Humans, Infant, Newborn, Male.
Abstract
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.
DOI: 10.3390/medicina55070389
PubMed: 31331098
Affiliations:
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xml:lang="fr"><term>Humains</term><term>Mâle</term><term>Nouveau-né</term><term>Tomodensitométrie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">31331098</PMID><DateCompleted><Year>2020</Year><Month>01</Month><Day>02</Day></DateCompleted><DateRevised><Year>2020</Year><Month>02</Month><Day>25</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1648-9144</ISSN><JournalIssue CitedMedium="Internet"><Volume>55</Volume><Issue>7</Issue><PubDate><Year>2019</Year><Month>Jul</Month><Day>19</Day></PubDate></JournalIssue><Title>Medicina (Kaunas, Lithuania)</Title><ISOAbbreviation>Medicina (Kaunas)</ISOAbbreviation></Journal><ArticleTitle>A New <i>ABCA3</i> Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome.</ArticleTitle><ELocationID EIdType="pii" ValidYN="Y">E389</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.3390/medicina55070389</ELocationID><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mitsiakos</LastName><ForeName>Georgios</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, "Papageorgiou" Hospital, PC 56403 Thessaloniki, Greece. mitsiakos@auth.gr.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tsakalidis</LastName><ForeName>Christos</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, "Papageorgiou" Hospital, PC 56403 Thessaloniki, Greece.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Karagianni</LastName><ForeName>Paraskevi</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, "Papageorgiou" Hospital, PC 56403 Thessaloniki, Greece.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gialamprinou</LastName><ForeName>Dimitra</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, "Papageorgiou" Hospital, PC 56403 Thessaloniki, Greece.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chatziioannidis</LastName><ForeName>Ilias</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, "Papageorgiou" Hospital, PC 56403 Thessaloniki, Greece.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Papoulidis</LastName><ForeName>Ioannis</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, "Papageorgiou" Hospital, PC 56403 Thessaloniki, Greece.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tsanakas</LastName><ForeName>Ioannis</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>rd Department of Pediatrics, Aristotle University of Thessaloniki, "Hippokratio" Hospital, PC 54642 Thessaloniki, Greece.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Soubasi</LastName><ForeName>Vasiliki</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, "Papageorgiou" Hospital, PC 56403 Thessaloniki, Greece.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2019</Year><Month>07</Month><Day>19</Day></ArticleDate></Article><MedlineJournalInfo><Country>Switzerland</Country><MedlineTA>Medicina (Kaunas)</MedlineTA><NlmUniqueID>9425208</NlmUniqueID><ISSNLinking>1010-660X</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C441524">ABCA3 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018528">ATP-Binding Cassette Transporters</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000305">Adrenal Cortex Hormones</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011663">Pulmonary Surfactants</NameOfSubstance></Chemical><Chemical><RegistryNumber>4QWG6N8QKH</RegistryNumber><NameOfSubstance UI="D006886">Hydroxychloroquine</NameOfSubstance></Chemical><Chemical><RegistryNumber>83905-01-5</RegistryNumber><NameOfSubstance UI="D017963">Azithromycin</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C580477">Surfactant Dysfunction</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D018528" MajorTopicYN="N">ATP-Binding Cassette Transporters</DescriptorName><QualifierName UI="Q000009" MajorTopicYN="Y">adverse effects</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000305" MajorTopicYN="N">Adrenal Cortex Hormones</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017963" MajorTopicYN="N">Azithromycin</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006886" MajorTopicYN="N">Hydroxychloroquine</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017563" MajorTopicYN="N">Lung Diseases, Interstitial</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011663" MajorTopicYN="N">Pulmonary Surfactants</DescriptorName><QualifierName UI="Q000037" MajorTopicYN="N">antagonists & inhibitors</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012127" MajorTopicYN="N">Respiratory Distress Syndrome, Newborn</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000209" MajorTopicYN="Y">etiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014057" MajorTopicYN="N">Tomography, X-Ray Computed</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="N">methods</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">ABCA3 gene mutation</Keyword><Keyword MajorTopicYN="N">medical treatment</Keyword><Keyword MajorTopicYN="N">neonatal respiratory distress syndrome</Keyword><Keyword MajorTopicYN="N">surfactant deficiency</Keyword></KeywordList><CoiStatement>The authors declare no conflict of interest.</CoiStatement></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2019</Year><Month>05</Month><Day>28</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2019</Year><Month>07</Month><Day>09</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2019</Year><Month>07</Month><Day>17</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2019</Year><Month>7</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2019</Year><Month>7</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2020</Year><Month>1</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">31331098</ArticleId><ArticleId 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sortKey="Mitsiakos, Georgios" sort="Mitsiakos, Georgios" uniqKey="Mitsiakos G" first="Georgios" last="Mitsiakos">Georgios Mitsiakos</name></noRegion><name sortKey="Chatziioannidis, Ilias" sort="Chatziioannidis, Ilias" uniqKey="Chatziioannidis I" first="Ilias" last="Chatziioannidis">Ilias Chatziioannidis</name><name sortKey="Gialamprinou, Dimitra" sort="Gialamprinou, Dimitra" uniqKey="Gialamprinou D" first="Dimitra" last="Gialamprinou">Dimitra Gialamprinou</name><name sortKey="Karagianni, Paraskevi" sort="Karagianni, Paraskevi" uniqKey="Karagianni P" first="Paraskevi" last="Karagianni">Paraskevi Karagianni</name><name sortKey="Papoulidis, Ioannis" sort="Papoulidis, Ioannis" uniqKey="Papoulidis I" first="Ioannis" last="Papoulidis">Ioannis Papoulidis</name><name sortKey="Soubasi, Vasiliki" sort="Soubasi, Vasiliki" uniqKey="Soubasi V" first="Vasiliki" last="Soubasi">Vasiliki Soubasi</name><name sortKey="Tsakalidis, Christos" sort="Tsakalidis, Christos" uniqKey="Tsakalidis C" first="Christos" last="Tsakalidis">Christos Tsakalidis</name><name sortKey="Tsanakas, Ioannis" sort="Tsanakas, Ioannis" uniqKey="Tsanakas I" first="Ioannis" last="Tsanakas">Ioannis Tsanakas</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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