LymphedemaV1, Main, Exploration, bibRecord, 001C71

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Identifieur interne : 001C71 ( Main/Exploration ); précédent : 001C70; suivant : 001C72

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Auteurs : Viktor Lukacs [États-Unis] ; Jayanti Mathur [États-Unis] ; Rong Mao [États-Unis] ; Pinar Bayrak-Toydemir [États-Unis] ; Melinda Procter [États-Unis] ; Stuart M. Cahalan [États-Unis] ; Helen J. Kim [États-Unis] ; Michael Bandell [États-Unis] ; Nicola Longo [États-Unis] ; Ronald W. Day [États-Unis] ; David A. Stevenson [États-Unis] ; Ardem Patapoutian [États-Unis] ; Bryan L. Krock [États-Unis]

Source :

Nature Communications [ 2041-1723 ] ; 2015.

RBID : PMC:4578306

Descripteurs français

English descriptors

KwdEn :
- Amino Acid Sequence, Anemia, Hemolytic, Congenital (genetics), Anemia, Hemolytic, Congenital (metabolism), Child, Preschool, Erythrocytes (metabolism), Female, Genes, Recessive, Humans, Hydrops Fetalis (genetics), Hydrops Fetalis (metabolism), Infant, Ion Channels (chemistry), Ion Channels (genetics), Ion Channels (metabolism), Lymphatic Diseases (genetics), Lymphatic Diseases (metabolism), Male, Molecular Sequence Data, Mutation, Mutation, Missense, Sequence Alignment.
MESH :
- chemical , chemistry : Ion Channels.
- genetics : Anemia, Hemolytic, Congenital, Hydrops Fetalis, Ion Channels, Lymphatic Diseases.
- metabolism : Anemia, Hemolytic, Congenital, Erythrocytes, Hydrops Fetalis, Ion Channels, Lymphatic Diseases.
- Amino Acid Sequence, Child, Preschool, Female, Genes, Recessive, Humans, Infant, Male, Molecular Sequence Data, Mutation, Mutation, Missense, Sequence Alignment.

Abstract

Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been documented. Here we discover a novel role of this channel in the lymphatic system. Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia. Analysis of patients' erythrocytes as well as studies in a heterologous system reveal greatly attenuated PIEZO1 function in affected alleles. Our results delineate a novel clinical category of PIEZO1-associated hereditary lymphoedema.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578306

DOI: 10.1038/ncomms9329
PubMed: 26387913
PubMed Central: 4578306

Affiliations:

États-Unis

Le document en format XML

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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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</nlm:aff>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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, Stanford, California 94305,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Patapoutian, Ardem" sort="Patapoutian, Ardem" uniqKey="Patapoutian A" first="Ardem" last="Patapoutian">Ardem Patapoutian</name>
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, La Jolla, California 92037,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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, Philadelphia, Pennsylvania 19104,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="a10"><institution>Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania</institution>
, Philadelphia, Pennsylvania 19104,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<series><title level="j">Nature Communications</title>
<idno type="eISSN">2041-1723</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Sequence</term>
<term>Anemia, Hemolytic, Congenital (genetics)</term>
<term>Anemia, Hemolytic, Congenital (metabolism)</term>
<term>Child, Preschool</term>
<term>Erythrocytes (metabolism)</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Humans</term>
<term>Hydrops Fetalis (genetics)</term>
<term>Hydrops Fetalis (metabolism)</term>
<term>Infant</term>
<term>Ion Channels (chemistry)</term>
<term>Ion Channels (genetics)</term>
<term>Ion Channels (metabolism)</term>
<term>Lymphatic Diseases (genetics)</term>
<term>Lymphatic Diseases (metabolism)</term>
<term>Male</term>
<term>Molecular Sequence Data</term>
<term>Mutation</term>
<term>Mutation, Missense</term>
<term>Sequence Alignment</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Alignement de séquences</term>
<term>Anasarque foeto-placentaire (génétique)</term>
<term>Anasarque foeto-placentaire (métabolisme)</term>
<term>Anémie hémolytique congénitale (génétique)</term>
<term>Anémie hémolytique congénitale (métabolisme)</term>
<term>Canaux ioniques ()</term>
<term>Canaux ioniques (génétique)</term>
<term>Canaux ioniques (métabolisme)</term>
<term>Données de séquences moléculaires</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Gènes récessifs</term>
<term>Humains</term>
<term>Maladies lymphatiques (génétique)</term>
<term>Maladies lymphatiques (métabolisme)</term>
<term>Mutation</term>
<term>Mutation faux-sens</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Séquence d'acides aminés</term>
<term>Érythrocytes (métabolisme)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>Ion Channels</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Anemia, Hemolytic, Congenital</term>
<term>Hydrops Fetalis</term>
<term>Ion Channels</term>
<term>Lymphatic Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anasarque foeto-placentaire</term>
<term>Anémie hémolytique congénitale</term>
<term>Canaux ioniques</term>
<term>Maladies lymphatiques</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Anemia, Hemolytic, Congenital</term>
<term>Erythrocytes</term>
<term>Hydrops Fetalis</term>
<term>Ion Channels</term>
<term>Lymphatic Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Anasarque foeto-placentaire</term>
<term>Anémie hémolytique congénitale</term>
<term>Canaux ioniques</term>
<term>Maladies lymphatiques</term>
<term>Érythrocytes</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term>
<term>Child, Preschool</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Molecular Sequence Data</term>
<term>Mutation</term>
<term>Mutation, Missense</term>
<term>Sequence Alignment</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Alignement de séquences</term>
<term>Canaux ioniques</term>
<term>Données de séquences moléculaires</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Gènes récessifs</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mutation faux-sens</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Séquence d'acides aminés</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in <italic>PIEZO1</italic>
 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of <italic>PIEZO1</italic>
 loss of function in humans has not previously been documented. Here we discover a novel role of this channel in the lymphatic system. Through whole-exome sequencing, we identify biallelic mutations in <italic>PIEZO1</italic>
 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia. Analysis of patients' erythrocytes as well as studies in a heterologous system reveal greatly attenuated PIEZO1 function in affected alleles. Our results delineate a novel clinical category of PIEZO1-associated hereditary lymphoedema.</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Planas Paz, L" uniqKey="Planas Paz L">L. Planas-Paz</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Sabine, A" uniqKey="Sabine A">A. Sabine</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Coste, B" uniqKey="Coste B">B. Coste</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Coste, B" uniqKey="Coste B">B. Coste</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ranade, S S" uniqKey="Ranade S">S. S. Ranade</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Woo, S H" uniqKey="Woo S">S. H. Woo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Coste, B" uniqKey="Coste B">B. Coste</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Li, J" uniqKey="Li J">J. Li</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Peyronnet, R" uniqKey="Peyronnet R">R. Peyronnet</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Faucherre, A" uniqKey="Faucherre A">A. Faucherre</name>
</author>
<author><name sortKey="Kissa, K" uniqKey="Kissa K">K. Kissa</name>
</author>
<author><name sortKey="Nargeot, J" uniqKey="Nargeot J">J. Nargeot</name>
</author>
<author><name sortKey="Mangoni, M E" uniqKey="Mangoni M">M. E. Mangoni</name>
</author>
<author><name sortKey="Jopling, C" uniqKey="Jopling C">C. Jopling</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Woo, S H" uniqKey="Woo S">S. H. Woo</name>
</author>
<author><name sortKey="Lumpkin, E A" uniqKey="Lumpkin E">E. A. Lumpkin</name>
</author>
<author><name sortKey="Patapoutian, A" uniqKey="Patapoutian A">A. Patapoutian</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Albuisson, J" uniqKey="Albuisson J">J. Albuisson</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Andolfo, I" uniqKey="Andolfo I">I. Andolfo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Demolombe, S" uniqKey="Demolombe S">S. Demolombe</name>
</author>
<author><name sortKey="Duprat, F" uniqKey="Duprat F">F. Duprat</name>
</author>
<author><name sortKey="Honore, E" uniqKey="Honore E">E. Honore</name>
</author>
<author><name sortKey="Patel, A" uniqKey="Patel A">A. Patel</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Cahalan, S M" uniqKey="Cahalan S">S. M. Cahalan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ranade, S S" uniqKey="Ranade S">S. S. Ranade</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Syeda, R" uniqKey="Syeda R">R. Syeda</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Coste, B" uniqKey="Coste B">B. Coste</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kumar, P" uniqKey="Kumar P">P. Kumar</name>
</author>
<author><name sortKey="Henikoff, S" uniqKey="Henikoff S">S. Henikoff</name>
</author>
<author><name sortKey="Ng, P C" uniqKey="Ng P">P. C. Ng</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Adzhubei, I A" uniqKey="Adzhubei I">I. A. Adzhubei</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Alders, M" uniqKey="Alders M">M. Alders</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Frosk, P" uniqKey="Frosk P">P. Frosk</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Grootenboer, S" uniqKey="Grootenboer S">S. Grootenboer</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Entezami, M" uniqKey="Entezami M">M. Entezami</name>
</author>
<author><name sortKey="Becker, R" uniqKey="Becker R">R. Becker</name>
</author>
<author><name sortKey="Menssen, H D" uniqKey="Menssen H">H. D. Menssen</name>
</author>
<author><name sortKey="Marcinkowski, M" uniqKey="Marcinkowski M">M. Marcinkowski</name>
</author>
<author><name sortKey="Versmold, H T" uniqKey="Versmold H">H. T. Versmold</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Simms, B A" uniqKey="Simms B">B. A. Simms</name>
</author>
<author><name sortKey="Zamponi, G W" uniqKey="Zamponi G">G. W. Zamponi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bendahhou, S" uniqKey="Bendahhou S">S. Bendahhou</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Wooderchak Donahue, W L" uniqKey="Wooderchak Donahue W">W. L. Wooderchak-Donahue</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Li, H" uniqKey="Li H">H. Li</name>
</author>
<author><name sortKey="Durbin, R" uniqKey="Durbin R">R. Durbin</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Li, H" uniqKey="Li H">H. Li</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mckenna, A" uniqKey="Mckenna A">A. McKenna</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Wang, K" uniqKey="Wang K">K. Wang</name>
</author>
<author><name sortKey="Li, M" uniqKey="Li M">M. Li</name>
</author>
<author><name sortKey="Hakonarson, H" uniqKey="Hakonarson H">H. Hakonarson</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ran, F A" uniqKey="Ran F">F. A. Ran</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Edelstein, A" uniqKey="Edelstein A">A. Edelstein</name>
</author>
<author><name sortKey="Amodaj, N" uniqKey="Amodaj N">N. Amodaj</name>
</author>
<author><name sortKey="Hoover, K" uniqKey="Hoover K">K. Hoover</name>
</author>
<author><name sortKey="Vale, R" uniqKey="Vale R">R. Vale</name>
</author>
<author><name sortKey="Stuurman, N" uniqKey="Stuurman N">N. Stuurman</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Schindelin, J" uniqKey="Schindelin J">J. Schindelin</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Lukacs, Viktor" sort="Lukacs, Viktor" uniqKey="Lukacs V" first="Viktor" last="Lukacs">Viktor Lukacs</name>
</noRegion>
<name sortKey="Bandell, Michael" sort="Bandell, Michael" uniqKey="Bandell M" first="Michael" last="Bandell">Michael Bandell</name>
<name sortKey="Bayrak Toydemir, Pinar" sort="Bayrak Toydemir, Pinar" uniqKey="Bayrak Toydemir P" first="Pinar" last="Bayrak-Toydemir">Pinar Bayrak-Toydemir</name>
<name sortKey="Bayrak Toydemir, Pinar" sort="Bayrak Toydemir, Pinar" uniqKey="Bayrak Toydemir P" first="Pinar" last="Bayrak-Toydemir">Pinar Bayrak-Toydemir</name>
<name sortKey="Cahalan, Stuart M" sort="Cahalan, Stuart M" uniqKey="Cahalan S" first="Stuart M." last="Cahalan">Stuart M. Cahalan</name>
<name sortKey="Day, Ronald W" sort="Day, Ronald W" uniqKey="Day R" first="Ronald W." last="Day">Ronald W. Day</name>
<name sortKey="Kim, Helen J" sort="Kim, Helen J" uniqKey="Kim H" first="Helen J." last="Kim">Helen J. Kim</name>
<name sortKey="Krock, Bryan L" sort="Krock, Bryan L" uniqKey="Krock B" first="Bryan L." last="Krock">Bryan L. Krock</name>
<name sortKey="Krock, Bryan L" sort="Krock, Bryan L" uniqKey="Krock B" first="Bryan L." last="Krock">Bryan L. Krock</name>
<name sortKey="Krock, Bryan L" sort="Krock, Bryan L" uniqKey="Krock B" first="Bryan L." last="Krock">Bryan L. Krock</name>
<name sortKey="Krock, Bryan L" sort="Krock, Bryan L" uniqKey="Krock B" first="Bryan L." last="Krock">Bryan L. Krock</name>
<name sortKey="Longo, Nicola" sort="Longo, Nicola" uniqKey="Longo N" first="Nicola" last="Longo">Nicola Longo</name>
<name sortKey="Mao, Rong" sort="Mao, Rong" uniqKey="Mao R" first="Rong" last="Mao">Rong Mao</name>
<name sortKey="Mao, Rong" sort="Mao, Rong" uniqKey="Mao R" first="Rong" last="Mao">Rong Mao</name>
<name sortKey="Mathur, Jayanti" sort="Mathur, Jayanti" uniqKey="Mathur J" first="Jayanti" last="Mathur">Jayanti Mathur</name>
<name sortKey="Patapoutian, Ardem" sort="Patapoutian, Ardem" uniqKey="Patapoutian A" first="Ardem" last="Patapoutian">Ardem Patapoutian</name>
<name sortKey="Procter, Melinda" sort="Procter, Melinda" uniqKey="Procter M" first="Melinda" last="Procter">Melinda Procter</name>
<name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A." last="Stevenson">David A. Stevenson</name>
<name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A." last="Stevenson">David A. Stevenson</name>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur le lymphœdème

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

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