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Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood

Identifieur interne : 000A07 ( Main/Exploration ); précédent : 000A06; suivant : 000A08

Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood

Auteurs : Effrosyni D. Manali [Grèce] ; Marie Legendre [France] ; Nadia Nathan [France] ; Caroline Kannengiesser [France] ; Aurore Coulomb-L'Hermine [France] ; Theofanis Tsiligiannis ; Pericles Tomos [Grèce] ; Matthias Griese [Allemagne] ; Raphael Borie [France] ; Annick Clement [France] ; Serge Amselem [France] ; Bruno Crestani [France] ; Spyros A. Papiris [Grèce]

Source :

RBID : PMC:6646961

Abstract

The adenosine triphosphate (ATP)-binding cassette subfamily A member 3 (ABCA3) is a transmembrane glycoprotein that uses energy of ATP hydrolysis to transport phospholipids into the lamellar bodies of type 2 alveolar epithelial cells (AEC) and regulates lung surfactant homeostasis. More than 200 mutations have already been described in ABCA3, located on chromosome 16 [1, 2]. Patients present with a great heterogeneity of phenotypes, from lethal neonatal respiratory distress syndrome (RDS) to childhood and rarely adult interstitial lung disease (ILD) [3, 4]. ABCA3 mutations-related lung disease inheritance is autosomal recessive, as it requires two disease-causing (bi-allelic) mutations, one from each parent.


Url:
DOI: 10.1183/23120541.00066-2019
PubMed: 31360696
PubMed Central: 6646961


Affiliations:


Links toward previous steps (curation, corpus...)


Le document en format XML

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mutations in a patient with childhood ILD who reached adulthood</title>
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</author>
<author>
<name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name>
<affiliation wicri:level="3">
<nlm:aff id="af4">Service de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3">
<nlm:aff id="af9">Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris</wicri:regionArea>
<placeName>
<region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation>
<nlm:aff id="af10">These authors contributed equally</nlm:aff>
</affiliation>
</author>
<author>
<name sortKey="Papiris, Spyros A" sort="Papiris, Spyros A" uniqKey="Papiris S" first="Spyros A." last="Papiris">Spyros A. Papiris</name>
<affiliation wicri:level="3">
<nlm:aff id="af1">2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens, Greece</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>2nd Pulmonary Medicine Dept, General University Hospital “Attikon”, Medical School, National and Kapodistrian University of Athens, Athens</wicri:regionArea>
<placeName>
<settlement type="city">Athènes</settlement>
<region nuts="2" type="region">Attique (région)</region>
</placeName>
</affiliation>
<affiliation>
<nlm:aff id="af10">These authors contributed equally</nlm:aff>
</affiliation>
</author>
</analytic>
<series>
<title level="j">ERJ Open Research</title>
<idno type="eISSN">2312-0541</idno>
<imprint>
<date when="2019">2019</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<p>The adenosine triphosphate (ATP)-binding cassette subfamily A member 3 (ABCA3) is a transmembrane glycoprotein that uses energy of ATP hydrolysis to transport phospholipids into the lamellar bodies of type 2 alveolar epithelial cells (AEC) and regulates lung surfactant homeostasis. More than 200 mutations have already been described in
<italic>ABCA3</italic>
, located on chromosome 16 [1, 2]. Patients present with a great heterogeneity of phenotypes, from lethal neonatal respiratory distress syndrome (RDS) to childhood and rarely adult interstitial lung disease (ILD) [3, 4].
<italic>ABCA3</italic>
mutations-related lung disease inheritance is autosomal recessive, as it requires two disease-causing (bi-allelic) mutations, one from each parent.</p>
</div>
</front>
<back>
<div1 type="bibliography">
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</TEI>
<affiliations>
<list>
<country>
<li>Allemagne</li>
<li>France</li>
<li>Grèce</li>
</country>
<region>
<li>Attique (région)</li>
<li>Bavière</li>
<li>District de Haute-Bavière</li>
<li>Île-de-France</li>
</region>
<settlement>
<li>Athènes</li>
<li>Munich</li>
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<li>Université Louis-et-Maximilien de Munich</li>
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<noCountry>
<name sortKey="Tsiligiannis, Theofanis" sort="Tsiligiannis, Theofanis" uniqKey="Tsiligiannis T" first="Theofanis" last="Tsiligiannis">Theofanis Tsiligiannis</name>
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<name sortKey="Tomos, Pericles" sort="Tomos, Pericles" uniqKey="Tomos P" first="Pericles" last="Tomos">Pericles Tomos</name>
</country>
<country name="France">
<region name="Île-de-France">
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<name sortKey="Coulomb L Hermine, Aurore" sort="Coulomb L Hermine, Aurore" uniqKey="Coulomb L Hermine A" first="Aurore" last="Coulomb-L'Hermine">Aurore Coulomb-L'Hermine</name>
<name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name>
<name sortKey="Crestani, Bruno" sort="Crestani, Bruno" uniqKey="Crestani B" first="Bruno" last="Crestani">Bruno Crestani</name>
<name sortKey="Kannengiesser, Caroline" sort="Kannengiesser, Caroline" uniqKey="Kannengiesser C" first="Caroline" last="Kannengiesser">Caroline Kannengiesser</name>
<name sortKey="Nathan, Nadia" sort="Nathan, Nadia" uniqKey="Nathan N" first="Nadia" last="Nathan">Nadia Nathan</name>
</country>
<country name="Allemagne">
<region name="Bavière">
<name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name>
</region>
</country>
</tree>
</affiliations>
</record>

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