Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
Identifieur interne : 000073 ( France/Analysis ); précédent : 000072; suivant : 000074Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
Auteurs : Elisavet Fotiou [Royaume-Uni] ; Silvia Martin-Almedina [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Shin Lin [États-Unis] ; Kristiana Gordon [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Giles Atton [Royaume-Uni] ; Iona Jeffery [Royaume-Uni] ; David C. Rees [Royaume-Uni] ; Cyril Mignot [France] ; Julie Vogt [Royaume-Uni] ; Tessa Homfray [Royaume-Uni] ; Michael P. Snyder [États-Unis] ; Stanley G. Rockson [États-Unis] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni]Source :
- Nature Communications [ 2041-1723 ] ; 2015.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Analyse de séquence d'ADN, Anasarque foeto-placentaire (génétique), Anémie hémolytique congénitale (génétique), Canaux ioniques (génétique), Enfant, Enfant d'âge préscolaire, Femelle, Humains, Hétérozygote, Lymphangiectasie intestinale (génétique), Lymphangiectasie intestinale (imagerie diagnostique), Lymphoedème (génétique), Lymphoedème (imagerie diagnostique), Lymphoscintigraphie, Malformations crâniofaciales (génétique), Malformations crâniofaciales (imagerie diagnostique), Mutation, Mâle, Nouveau-né, Technique de Western.
- MESH :
- génétique : Anasarque foeto-placentaire, Anémie hémolytique congénitale, Canaux ioniques, Lymphangiectasie intestinale, Lymphoedème, Malformations crâniofaciales.
- imagerie diagnostique : Lymphangiectasie intestinale, Lymphoedème, Malformations crâniofaciales.
- Adolescent, Adulte, Analyse de séquence d'ADN, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Hétérozygote, Lymphoscintigraphie, Mutation, Mâle, Nouveau-né, Technique de Western.
English descriptors
- KwdEn :
- Adolescent, Adult, Anemia, Hemolytic, Congenital (genetics), Blotting, Western, Child, Child, Preschool, Craniofacial Abnormalities (diagnostic imaging), Craniofacial Abnormalities (genetics), Female, Heterozygote, Humans, Hydrops Fetalis (genetics), Infant, Newborn, Ion Channels (genetics), Lymphangiectasis, Intestinal (diagnostic imaging), Lymphangiectasis, Intestinal (genetics), Lymphedema (diagnostic imaging), Lymphedema (genetics), Lymphoscintigraphy, Male, Mutation, Sequence Analysis, DNA.
- MESH :
- chemical , genetics : Ion Channels.
- diagnostic imaging : Craniofacial Abnormalities, Lymphangiectasis, Intestinal, Lymphedema.
- genetics : Anemia, Hemolytic, Congenital, Craniofacial Abnormalities, Hydrops Fetalis, Lymphangiectasis, Intestinal, Lymphedema.
- Adolescent, Adult, Blotting, Western, Child, Child, Preschool, Female, Heterozygote, Humans, Infant, Newborn, Lymphoscintigraphy, Male, Mutation, Sequence Analysis, DNA.
Abstract
Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous mutations in
Url:
DOI: 10.1038/ncomms9085
PubMed: 26333996
PubMed Central: 4568316
Affiliations:
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PMC:4568316Le document en format XML
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Simpson</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guy's Hospital</institution>, London SE1 9RY,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lin, Shin" sort="Lin, Shin" uniqKey="Lin S" first="Shin" last="Lin">Shin Lin</name><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Division of Cardiovascular Medicine, Stanford University</institution>, Stanford, California 94305,<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="a4"><institution>Department of Genetics, Stanford University</institution>, Stanford, California 94305,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation wicri:level="1"><nlm:aff id="a5"><institution>Department of Dermatology, St. George's Healthcare NHS Trust</institution>, London SW17 0QT,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>South West Thames Regional Genetics Unit, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Atton, Giles" sort="Atton, Giles" uniqKey="Atton G" first="Giles" last="Atton">Giles Atton</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>South West Thames Regional Genetics Unit, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Jeffery, Iona" sort="Jeffery, Iona" uniqKey="Jeffery I" first="Iona" last="Jeffery">Iona Jeffery</name><affiliation wicri:level="1"><nlm:aff id="a7"><institution>Pathology Department, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Rees, David C" sort="Rees, David C" uniqKey="Rees D" first="David C." last="Rees">David C. Rees</name><affiliation wicri:level="1"><nlm:aff id="a8"><institution>Department of Haematological Medicine, King's College London School of Medicine, King's College Hospital</institution>, London SE5 9RS,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="1"><nlm:aff id="a9"><institution>Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares</institution>, 75013 Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><affiliation wicri:level="1"><nlm:aff id="a10"><institution>West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital</institution>, Birmingham B15 2TG,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>South West Thames Regional Genetics Unit, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Snyder, Michael P" sort="Snyder, Michael P" uniqKey="Snyder M" first="Michael P." last="Snyder">Michael P. Snyder</name><affiliation wicri:level="1"><nlm:aff id="a4"><institution>Department of Genetics, Stanford University</institution>, Stanford, California 94305,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Rockson, Stanley G" sort="Rockson, Stanley G" uniqKey="Rockson S" first="Stanley G." last="Rockson">Stanley G. Rockson</name><affiliation wicri:level="1"><nlm:aff id="a3"><institution>Division of Cardiovascular Medicine, Stanford University</institution>, Stanford, California 94305,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Cardiovascular and Cell Sciences Institute, St. George's University of London</institution>, Cranmer Terrace, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Cardiovascular and Cell Sciences Institute, St. George's University of London</institution>, Cranmer Terrace, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="1"><nlm:aff id="a6"><institution>South West Thames Regional Genetics Unit, St. George's University of London</institution>, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Cardiovascular and Cell Sciences Institute, St. George's University of London</institution>, Cranmer Terrace, London SW17 0RE,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">Nature Communications</title><idno type="eISSN">2041-1723</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Anemia, Hemolytic, Congenital (genetics)</term><term>Blotting, Western</term><term>Child</term><term>Child, Preschool</term><term>Craniofacial Abnormalities (diagnostic imaging)</term><term>Craniofacial Abnormalities (genetics)</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Hydrops Fetalis (genetics)</term><term>Infant, Newborn</term><term>Ion Channels (genetics)</term><term>Lymphangiectasis, Intestinal (diagnostic imaging)</term><term>Lymphangiectasis, Intestinal (genetics)</term><term>Lymphedema (diagnostic imaging)</term><term>Lymphedema (genetics)</term><term>Lymphoscintigraphy</term><term>Male</term><term>Mutation</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Analyse de séquence d'ADN</term><term>Anasarque foeto-placentaire (génétique)</term><term>Anémie hémolytique congénitale (génétique)</term><term>Canaux ioniques (génétique)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Hétérozygote</term><term>Lymphangiectasie intestinale (génétique)</term><term>Lymphangiectasie intestinale (imagerie diagnostique)</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (imagerie diagnostique)</term><term>Lymphoscintigraphie</term><term>Malformations crâniofaciales (génétique)</term><term>Malformations crâniofaciales (imagerie diagnostique)</term><term>Mutation</term><term>Mâle</term><term>Nouveau-né</term><term>Technique de Western</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ion Channels</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Craniofacial Abnormalities</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Anemia, Hemolytic, Congenital</term><term>Craniofacial Abnormalities</term><term>Hydrops Fetalis</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</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>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Malformations crâniofaciales</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Malformations crâniofaciales</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Blotting, Western</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Infant, Newborn</term><term>Lymphoscintigraphy</term><term>Male</term><term>Mutation</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Analyse de séquence d'ADN</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Hétérozygote</term><term>Lymphoscintigraphie</term><term>Mutation</term><term>Mâle</term><term>Nouveau-né</term><term>Technique de Western</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous mutations in <italic>PIEZO1</italic>, resulting in an autosomal recessive form of GLD with a high incidence of non-immune hydrops fetalis and childhood onset of facial and four limb lymphoedema. Mutations in <italic>PIEZO1</italic>, which encodes a mechanically activated ion channel, have been reported with autosomal dominant dehydrated hereditary stomatocytosis and non-immune hydrops of unknown aetiology. Besides its role in red blood cells, our findings indicate that PIEZO1 is also involved in the development of lymphatic structures.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Connell, F C" uniqKey="Connell F">F. C. Connell</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Alders, M" uniqKey="Alders M">M. 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Desmet</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Burnand, K M" uniqKey="Burnand K">K. M. Burnand</name></author><author><name sortKey="Glass, D M" uniqKey="Glass D">D. M. Glass</name></author><author><name sortKey="Sundaraiya, S" uniqKey="Sundaraiya S">S. Sundaraiya</name></author><author><name sortKey="Mortimer, P S" uniqKey="Mortimer P">P. S. Mortimer</name></author><author><name sortKey="Peters, A M" uniqKey="Peters A">A. M. Peters</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="Mchugh, B J" uniqKey="Mchugh B">B. J. McHugh</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="Faucherre, A" uniqKey="Faucherre A">A. 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Gottlieb</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bellini, C" uniqKey="Bellini C">C. Bellini</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ami, O" uniqKey="Ami O">O. Ami</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Atton, G" uniqKey="Atton G">G. Atton</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Beneteau, C" uniqKey="Beneteau C">C. Beneteau</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="Yao, L C" uniqKey="Yao L">L.-C. Yao</name></author><author><name sortKey="Baluk, P" uniqKey="Baluk P">P. Baluk</name></author><author><name sortKey="Srinivasan, R S" uniqKey="Srinivasan R">R. S. Srinivasan</name></author><author><name sortKey="Oliver, G" uniqKey="Oliver G">G. Oliver</name></author><author><name sortKey="Mcdonald, D M" uniqKey="Mcdonald D">D. M. McDonald</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Quinlan, A R" uniqKey="Quinlan A">A. R. Quinlan</name></author><author><name sortKey="Hall, I M" uniqKey="Hall I">I. M. Hall</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="Simpson, M A" uniqKey="Simpson M">M. A. Simpson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wang, K" uniqKey="Wang K">K. Wang</name></author><author><name sortKey="Li, M Y" uniqKey="Li M">M. Y. Li</name></author><author><name sortKey="Hakonarson, H" uniqKey="Hakonarson H">H. Hakonarson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rozen, S" uniqKey="Rozen S">S. Rozen</name></author><author><name sortKey="Skaletsky, H" uniqKey="Skaletsky H">H. Skaletsky</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>France</li><li>Royaume-Uni</li><li>États-Unis</li></country></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Fotiou, Elisavet" sort="Fotiou, Elisavet" uniqKey="Fotiou E" first="Elisavet" last="Fotiou">Elisavet Fotiou</name></noRegion><name sortKey="Atton, Giles" sort="Atton, Giles" uniqKey="Atton G" first="Giles" last="Atton">Giles Atton</name><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><name sortKey="Homfray, Tessa" sort="Homfray, Tessa" uniqKey="Homfray T" first="Tessa" last="Homfray">Tessa Homfray</name><name sortKey="Jeffery, Iona" sort="Jeffery, Iona" uniqKey="Jeffery I" first="Iona" last="Jeffery">Iona Jeffery</name><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><name sortKey="Martin Almedina, Silvia" sort="Martin Almedina, Silvia" uniqKey="Martin Almedina S" first="Silvia" last="Martin-Almedina">Silvia Martin-Almedina</name><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><name sortKey="Rees, David C" sort="Rees, David C" uniqKey="Rees D" first="David C." last="Rees">David C. Rees</name><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A." last="Simpson">Michael A. Simpson</name><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name></country><country name="États-Unis"><noRegion><name sortKey="Lin, Shin" sort="Lin, Shin" uniqKey="Lin S" first="Shin" last="Lin">Shin Lin</name></noRegion><name sortKey="Lin, Shin" sort="Lin, Shin" uniqKey="Lin S" first="Shin" last="Lin">Shin Lin</name><name sortKey="Rockson, Stanley G" sort="Rockson, Stanley G" uniqKey="Rockson S" first="Stanley G." last="Rockson">Stanley G. Rockson</name><name sortKey="Snyder, Michael P" sort="Snyder, Michael P" uniqKey="Snyder M" first="Michael P." last="Snyder">Michael P. Snyder</name></country><country name="France"><noRegion><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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