LymphedemaV1, PubMed, Checkpoint, bibRecord, 000E69

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

Identifieur interne : 000E69 ( PubMed/Checkpoint ); précédent : 000E68; suivant : 000E70

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 : pubmed:26387913

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.

DOI: 10.1038/ncomms9329
PubMed: 26387913

Affiliations:

États-Unis

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Le document en format XML

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<term>Child, Preschool</term>
<term>Erythrocytes (metabolism)</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Humans</term>
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<term>Hydrops Fetalis (metabolism)</term>
<term>Infant</term>
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<term>Lymphatic Diseases (genetics)</term>
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<term>Sequence Alignment</term>
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<term>Anémie hémolytique congénitale (génétique)</term>
<term>Anémie hémolytique congénitale (métabolisme)</term>
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<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>
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<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>
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<term>Anémie hémolytique congénitale</term>
<term>Canaux ioniques</term>
<term>Maladies lymphatiques</term>
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</keywords>
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<term>Child, Preschool</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Humans</term>
<term>Infant</term>
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<term>Molecular Sequence Data</term>
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<front><div type="abstract" xml:lang="en">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.</div>
</front>
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</JournalIssue>
<Title>Nature communications</Title>
<ISOAbbreviation>Nat Commun</ISOAbbreviation>
</Journal>
<ArticleTitle>Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.</ArticleTitle>
<Pagination><MedlinePgn>8329</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1038/ncomms9329</ELocationID>
<Abstract><AbstractText>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.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lukacs</LastName>
<ForeName>Viktor</ForeName>
<Initials>V</Initials>
<AffiliationInfo><Affiliation>Howard Hughes Medical Institute, Molecular and Cellular Neuroscience, Dorris Neuroscience Center, The Scripps Research Institute, La Jolla, California 92037, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mathur</LastName>
<ForeName>Jayanti</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Genomics Institute of the Novartis Research Foundation, San Diego, California 92121, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mao</LastName>
<ForeName>Rong</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah 84108, USA.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Pathology, University of Utah, Salt Lake City, Utah 84112, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bayrak-Toydemir</LastName>
<ForeName>Pinar</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah 84108, USA.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Pathology, University of Utah, Salt Lake City, Utah 84112, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Procter</LastName>
<ForeName>Melinda</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah 84108, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Cahalan</LastName>
<ForeName>Stuart M</ForeName>
<Initials>SM</Initials>
<AffiliationInfo><Affiliation>Howard Hughes Medical Institute, Molecular and Cellular Neuroscience, Dorris Neuroscience Center, The Scripps Research Institute, La Jolla, California 92037, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kim</LastName>
<ForeName>Helen J</ForeName>
<Initials>HJ</Initials>
<Identifier Source="ORCID">http://orcid.org/0000-0003-0096-7740</Identifier>
<AffiliationInfo><Affiliation>Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, California 92037, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bandell</LastName>
<ForeName>Michael</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Genomics Institute of the Novartis Research Foundation, San Diego, California 92121, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Longo</LastName>
<ForeName>Nicola</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84112, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Day</LastName>
<ForeName>Ronald W</ForeName>
<Initials>RW</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, Division of Pediatric Cardiology, University of Utah, Salt Lake City, Utah 84112, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Stevenson</LastName>
<ForeName>David A</ForeName>
<Initials>DA</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84112, USA.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California 94305, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Patapoutian</LastName>
<ForeName>Ardem</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Howard Hughes Medical Institute, Molecular and Cellular Neuroscience, Dorris Neuroscience Center, The Scripps Research Institute, La Jolla, California 92037, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Krock</LastName>
<ForeName>Bryan L</ForeName>
<Initials>BL</Initials>
<AffiliationInfo><Affiliation>ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah 84108, USA.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Pathology, University of Utah, Salt Lake City, Utah 84112, USA.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>R01 NS083174</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>NS083174</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><Agency>Howard Hughes Medical Institute</Agency>
<Country>United States</Country>
</Grant>
</GrantList>
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<PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2015</Year>
<Month>09</Month>
<Day>21</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>England</Country>
<MedlineTA>Nat Commun</MedlineTA>
<NlmUniqueID>101528555</NlmUniqueID>
<ISSNLinking>2041-1723</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
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</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C515204">PIEZO1 protein, human</NameOfSubstance>
</Chemical>
</ChemicalList>
<SupplMeshList><SupplMeshName Type="Disease" UI="C536764">Xerocytosis, hereditary</SupplMeshName>
</SupplMeshList>
<CitationSubset>IM</CitationSubset>
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<MeshHeadingList><MeshHeading><DescriptorName UI="D000595" MajorTopicYN="N">Amino Acid Sequence</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000745" MajorTopicYN="N">Anemia, Hemolytic, Congenital</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D004912" MajorTopicYN="N">Erythrocytes</DescriptorName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005808" MajorTopicYN="N">Genes, Recessive</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015160" MajorTopicYN="N">Hydrops Fetalis</DescriptorName>
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<QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName>
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</MeshHeading>
<MeshHeading><DescriptorName UI="D008206" MajorTopicYN="N">Lymphatic Diseases</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
<QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
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<MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName>
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<MeshHeading><DescriptorName UI="D016415" MajorTopicYN="N">Sequence Alignment</DescriptorName>
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<affiliations><list><country><li>États-Unis</li>
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<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="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="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="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>
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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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