EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis
Identifieur interne : 012D90 ( Main/Exploration ); précédent : 012D89; suivant : 012D91EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis
Auteurs : Silvia Martin-Almedina [Royaume-Uni] ; Ines Martinez-Corral [Suède] ; Rita Holdhus [Norvège] ; Andres Vicente [Royaume-Uni] ; Elisavet Fotiou [Royaume-Uni] ; Shin Lin [États-Unis] ; Kjell Petersen [Norvège] ; Michael A. Simpson [Royaume-Uni] ; Alexander Hoischen [Norvège, Pays-Bas] ; Christian Gilissen [Pays-Bas] ; Heather Jeffery [Royaume-Uni] ; Giles Atton [Royaume-Uni] ; Christina Karapouliou [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Kristiana Gordon [Royaume-Uni] ; John W. Wiseman [Suède] ; Marianne Wedin [Suède] ; Stanley G. Rockson ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Michael P. Snyder [États-Unis] ; Siren Berland [Norvège] ; Sahar Mansour [Royaume-Uni] ; Taija Makinen [Suède] ; Pia Ostergaard [Royaume-Uni]Source :
- The Journal of Clinical Investigation [ 0021-9738 ] ; ????.
Abstract
Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are nonimmune conditions that present with generalized edema of the fetus, and approximately 15% of these nonimmune cases result from a lymphatic abnormality. Here, we have identified an autosomal dominant, inherited form of lymphatic-related (nonimmune) hydrops fetalis (LRHF). Independent exome sequencing projects on 2 families with a history of in utero and neonatal deaths associated with nonimmune hydrops fetalis uncovered 2 heterozygous missense variants in the gene encoding Eph receptor B4 (
Url:
DOI: 10.1172/JCI85794
PubMed: 27400125
PubMed Central: 4966301
Affiliations:
- Norvège, Pays-Bas, Royaume-Uni, Suède, États-Unis
- Angleterre, Californie, East Middle Sweden, Grand Londres, Gueldre, Svealand
- Londres, Nimègue, Uppsala
- Université d'Uppsala, Université de Londres
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis</title><author><name sortKey="Martin Almedina, Silvia" sort="Martin Almedina, Silvia" uniqKey="Martin Almedina S" first="Silvia" last="Martin-Almedina">Silvia Martin-Almedina</name><affiliation wicri:level="4"><nlm:aff id="A1">Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).</nlm:aff><orgName type="university">Université de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name><affiliation wicri:level="4"><nlm:aff id="A2">Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala</wicri:regionArea><orgName type="university">Université d'Uppsala</orgName><placeName><settlement type="city">Uppsala</settlement><region nuts="1">Svealand</region><region nuts="1">East Middle Sweden</region></placeName></affiliation></author><author><name sortKey="Holdhus, Rita" sort="Holdhus, Rita" uniqKey="Holdhus R" first="Rita" last="Holdhus">Rita Holdhus</name><affiliation wicri:level="1"><nlm:aff id="A3">Genomics Core Facility, Department of Clinical Science, University of Bergen, Bergen, Norway.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Norvège</country><wicri:regionArea>Genomics Core Facility, Department of Clinical Science, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Vicente, Andres" sort="Vicente, Andres" uniqKey="Vicente A" first="Andres" last="Vicente">Andres Vicente</name><affiliation wicri:level="3"><nlm:aff id="A4">Lymphatic Development Laboratory, Cancer Research UK London Research Institute, London, UK.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Lymphatic Development Laboratory, Cancer Research UK London Research Institute, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Fotiou, Elisavet" sort="Fotiou, Elisavet" uniqKey="Fotiou E" first="Elisavet" last="Fotiou">Elisavet Fotiou</name><affiliation wicri:level="4"><nlm:aff id="A1">Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).</nlm:aff><orgName type="university">Université de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lin, Shin" sort="Lin, Shin" uniqKey="Lin S" first="Shin" last="Lin">Shin Lin</name><affiliation><nlm:aff wicri:cut=" and" id="A5">Division of Cardiovascular Medicine</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="A6">Department of Genetics, Stanford University, Stanford, California, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Genetics, Stanford University, Stanford, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Petersen, Kjell" sort="Petersen, Kjell" uniqKey="Petersen K" first="Kjell" last="Petersen">Kjell Petersen</name><affiliation wicri:level="1"><nlm:aff id="A7">Computational Biology Unit, Department of Informatics, University of Bergen, Bergen, Norway.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Norvège</country><wicri:regionArea>Computational Biology Unit, Department of Informatics, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A." last="Simpson">Michael A. Simpson</name><affiliation wicri:level="3"><nlm:aff id="A8">Division of Genetics and Molecular Medicine, King’s College London School of Medicine, Guy’s Hospital, London, UK.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Division of Genetics and Molecular Medicine, King’s College London School of Medicine, Guy’s Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name><affiliation wicri:level="1"><nlm:aff id="A3">Genomics Core Facility, Department of Clinical Science, University of Bergen, Bergen, Norway.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Norvège</country><wicri:regionArea>Genomics Core Facility, Department of Clinical Science, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="A9">Department of Human Genetics, Radboud University Medical Center and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><affiliation wicri:level="3"><nlm:aff id="A9">Department of Human Genetics, Radboud University Medical Center and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Jeffery, Heather" sort="Jeffery, Heather" uniqKey="Jeffery H" first="Heather" last="Jeffery">Heather Jeffery</name><affiliation wicri:level="4"><nlm:aff id="A1">Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).</nlm:aff><orgName type="university">Université de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Atton, Giles" sort="Atton, Giles" uniqKey="Atton G" first="Giles" last="Atton">Giles Atton</name><affiliation wicri:level="4"><nlm:aff id="A10">South West Thames Regional Genetics Unit, St. George’s University of London, London, UK.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Unit, St. George’s University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Karapouliou, Christina" sort="Karapouliou, Christina" uniqKey="Karapouliou C" first="Christina" last="Karapouliou">Christina Karapouliou</name><affiliation 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last="Wiseman">John W. Wiseman</name><affiliation wicri:level="1"><nlm:aff id="A12">Discovery Sciences, RAD-Transgenics, AstraZeneca R&D, Mölndal, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Discovery Sciences, RAD-Transgenics, AstraZeneca R&D, Mölndal</wicri:regionArea><wicri:noRegion>Mölndal</wicri:noRegion></affiliation></author><author><name sortKey="Wedin, Marianne" sort="Wedin, Marianne" uniqKey="Wedin M" first="Marianne" last="Wedin">Marianne Wedin</name><affiliation wicri:level="1"><nlm:aff id="A12">Discovery Sciences, RAD-Transgenics, AstraZeneca R&D, Mölndal, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Discovery Sciences, RAD-Transgenics, AstraZeneca R&D, Mölndal</wicri:regionArea><wicri:noRegion>Mölndal</wicri:noRegion></affiliation></author><author><name sortKey="Rockson, Stanley G" sort="Rockson, Stanley G" uniqKey="Rockson S" first="Stanley G." last="Rockson">Stanley G. 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Snyder</name><affiliation wicri:level="2"><nlm:aff id="A6">Department of Genetics, Stanford University, Stanford, California, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Genetics, Stanford University, Stanford, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Berland, Siren" sort="Berland, Siren" uniqKey="Berland S" first="Siren" last="Berland">Siren Berland</name><affiliation wicri:level="1"><nlm:aff id="A13">Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Norvège</country><wicri:regionArea>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="4"><nlm:aff id="A10">South West Thames Regional Genetics Unit, St. George’s University of London, London, UK.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Unit, St. George’s University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name><affiliation wicri:level="4"><nlm:aff id="A2">Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala</wicri:regionArea><orgName type="university">Université d'Uppsala</orgName><placeName><settlement type="city">Uppsala</settlement><region nuts="1">Svealand</region><region nuts="1">East Middle Sweden</region></placeName></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="4"><nlm:aff id="A1">Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).</nlm:aff><orgName type="university">Université de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand 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S:ephb:kinase:inactivating</idno><idno type="wicri:Area/Main/Merge">014009</idno><idno type="wicri:Area/Main/Curation">012D90</idno><idno type="wicri:Area/Main/Exploration">012D90</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis</title><author><name sortKey="Martin Almedina, Silvia" sort="Martin Almedina, Silvia" uniqKey="Martin Almedina S" first="Silvia" last="Martin-Almedina">Silvia Martin-Almedina</name><affiliation wicri:level="4"><nlm:aff id="A1">Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).</nlm:aff><orgName type="university">Université de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name><affiliation wicri:level="4"><nlm:aff id="A2">Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala</wicri:regionArea><orgName type="university">Université d'Uppsala</orgName><placeName><settlement type="city">Uppsala</settlement><region nuts="1">Svealand</region><region nuts="1">East Middle Sweden</region></placeName></affiliation></author><author><name sortKey="Holdhus, Rita" sort="Holdhus, Rita" uniqKey="Holdhus R" first="Rita" last="Holdhus">Rita Holdhus</name><affiliation wicri:level="1"><nlm:aff id="A3">Genomics Core Facility, Department of Clinical Science, University of Bergen, Bergen, Norway.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Norvège</country><wicri:regionArea>Genomics Core Facility, Department of Clinical Science, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Vicente, Andres" sort="Vicente, Andres" uniqKey="Vicente A" first="Andres" last="Vicente">Andres Vicente</name><affiliation wicri:level="3"><nlm:aff id="A4">Lymphatic Development Laboratory, Cancer Research UK London Research Institute, London, UK.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Lymphatic Development Laboratory, Cancer Research UK London Research Institute, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Fotiou, Elisavet" sort="Fotiou, Elisavet" uniqKey="Fotiou E" first="Elisavet" last="Fotiou">Elisavet Fotiou</name><affiliation wicri:level="4"><nlm:aff id="A1">Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).</nlm:aff><orgName type="university">Université de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lin, Shin" sort="Lin, Shin" uniqKey="Lin S" first="Shin" last="Lin">Shin Lin</name><affiliation><nlm:aff wicri:cut=" and" id="A5">Division of Cardiovascular Medicine</nlm:aff></affiliation><affiliation wicri:level="2"><nlm:aff id="A6">Department of Genetics, Stanford University, Stanford, California, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Genetics, Stanford University, Stanford, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Petersen, Kjell" sort="Petersen, Kjell" uniqKey="Petersen K" first="Kjell" last="Petersen">Kjell Petersen</name><affiliation wicri:level="1"><nlm:aff id="A7">Computational Biology Unit, Department of Informatics, University of Bergen, Bergen, Norway.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Norvège</country><wicri:regionArea>Computational Biology Unit, Department of Informatics, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A." last="Simpson">Michael A. Simpson</name><affiliation wicri:level="3"><nlm:aff id="A8">Division of Genetics and Molecular Medicine, King’s College London School of Medicine, Guy’s Hospital, London, UK.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Division of Genetics and Molecular Medicine, King’s College London School of Medicine, Guy’s Hospital, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name><affiliation wicri:level="1"><nlm:aff id="A3">Genomics Core Facility, Department of Clinical Science, University of Bergen, Bergen, Norway.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Norvège</country><wicri:regionArea>Genomics Core Facility, Department of Clinical Science, University of Bergen, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation><affiliation wicri:level="3"><nlm:aff id="A9">Department of Human Genetics, Radboud University Medical Center and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><affiliation wicri:level="3"><nlm:aff id="A9">Department of Human Genetics, Radboud University Medical Center and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Jeffery, Heather" sort="Jeffery, Heather" uniqKey="Jeffery H" first="Heather" last="Jeffery">Heather Jeffery</name><affiliation wicri:level="4"><nlm:aff id="A1">Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).</nlm:aff><orgName type="university">Université de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Atton, Giles" sort="Atton, Giles" uniqKey="Atton G" first="Giles" last="Atton">Giles Atton</name><affiliation wicri:level="4"><nlm:aff id="A10">South West Thames Regional Genetics Unit, St. George’s University of London, London, UK.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Unit, St. George’s University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Karapouliou, Christina" sort="Karapouliou, Christina" uniqKey="Karapouliou C" first="Christina" last="Karapouliou">Christina Karapouliou</name><affiliation wicri:level="4"><nlm:aff id="A1">Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).</nlm:aff><orgName type="university">Université de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="4"><nlm:aff id="A10">South West Thames Regional Genetics Unit, St. George’s University of London, London, UK.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Unit, St. George’s University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><affiliation wicri:level="3"><nlm:aff id="A11">Department of Dermatology, St. George’s University Hospital NHS Foundation Trust, London, UK.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>Department of Dermatology, St. George’s University Hospital NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Wiseman, John W" sort="Wiseman, John W" uniqKey="Wiseman J" first="John W." last="Wiseman">John W. Wiseman</name><affiliation wicri:level="1"><nlm:aff id="A12">Discovery Sciences, RAD-Transgenics, AstraZeneca R&D, Mölndal, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Discovery Sciences, RAD-Transgenics, AstraZeneca R&D, Mölndal</wicri:regionArea><wicri:noRegion>Mölndal</wicri:noRegion></affiliation></author><author><name sortKey="Wedin, Marianne" sort="Wedin, Marianne" uniqKey="Wedin M" first="Marianne" last="Wedin">Marianne Wedin</name><affiliation wicri:level="1"><nlm:aff id="A12">Discovery Sciences, RAD-Transgenics, AstraZeneca R&D, Mölndal, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Discovery Sciences, RAD-Transgenics, AstraZeneca R&D, Mölndal</wicri:regionArea><wicri:noRegion>Mölndal</wicri:noRegion></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><nlm:aff wicri:cut=" and" id="A5">Division of Cardiovascular Medicine</nlm:aff></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation wicri:level="4"><nlm:aff id="A1">Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).</nlm:aff><orgName type="university">Université de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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="4"><nlm:aff id="A1">Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).</nlm:aff><orgName type="university">Université de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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="2"><nlm:aff id="A6">Department of Genetics, Stanford University, Stanford, California, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Genetics, Stanford University, Stanford, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Berland, Siren" sort="Berland, Siren" uniqKey="Berland S" first="Siren" last="Berland">Siren Berland</name><affiliation wicri:level="1"><nlm:aff id="A13">Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Norvège</country><wicri:regionArea>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen</wicri:regionArea><wicri:noRegion>Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><affiliation wicri:level="4"><nlm:aff id="A10">South West Thames Regional Genetics Unit, St. George’s University of London, London, UK.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country><wicri:regionArea>South West Thames Regional Genetics Unit, St. George’s University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name><affiliation wicri:level="4"><nlm:aff id="A2">Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala</wicri:regionArea><orgName type="university">Université d'Uppsala</orgName><placeName><settlement type="city">Uppsala</settlement><region nuts="1">Svealand</region><region nuts="1">East Middle Sweden</region></placeName></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="4"><nlm:aff id="A1">Lymphovascular Research Unit, Cardiovascular and Cell Sciences Institute, St. George’s University of London, London, United Kingdom (UK).</nlm:aff><orgName type="university">Université de Londres</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j">The Journal of Clinical Investigation</title><idno type="ISSN">0021-9738</idno><idno type="eISSN">1558-8238</idno><imprint><date when="????">????</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are nonimmune conditions that present with generalized edema of the fetus, and approximately 15% of these nonimmune cases result from a lymphatic abnormality. Here, we have identified an autosomal dominant, inherited form of lymphatic-related (nonimmune) hydrops fetalis (LRHF). Independent exome sequencing projects on 2 families with a history of in utero and neonatal deaths associated with nonimmune hydrops fetalis uncovered 2 heterozygous missense variants in the gene encoding Eph receptor B4 (<italic>EPHB4</italic>). Biochemical analysis determined that the mutant EPHB4 proteins are devoid of tyrosine kinase activity, indicating that loss of EPHB4 signaling contributes to LRHF pathogenesis. Further, inactivation of <italic>Ephb4</italic> in lymphatic endothelial cells of developing mouse embryos led to defective lymphovenous valve formation and consequent subcutaneous edema. Together, these findings identify EPHB4 as a critical regulator of early lymphatic vascular development and demonstrate that mutations in the gene can cause an autosomal dominant form of LRHF that is associated with a high mortality rate.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Bellini, C" uniqKey="Bellini C">C Bellini</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Connell, Fc" uniqKey="Connell F">FC Connell</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="Connell, F" uniqKey="Connell F">F Connell</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="Fotiou, E" uniqKey="Fotiou E">E Fotiou</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kuijper, S" uniqKey="Kuijper S">S Kuijper</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pitulescu, Me" uniqKey="Pitulescu M">ME Pitulescu</name></author><author><name sortKey="Adams, Rh" uniqKey="Adams R">RH Adams</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wang, Hu" uniqKey="Wang H">HU Wang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Adams, Rh" uniqKey="Adams R">RH Adams</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zhang, G" uniqKey="Zhang G">G Zhang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Makinen, T" uniqKey="Makinen T">T Makinen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Martinez Corral, I" uniqKey="Martinez Corral I">I Martinez-Corral</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Srinivasan, Rs" uniqKey="Srinivasan R">RS Srinivasan</name></author><author><name sortKey="Oliver, G" uniqKey="Oliver G">G Oliver</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hagerling, R" uniqKey="Hagerling R">R Hagerling</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Geng, X" uniqKey="Geng X">X Geng</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bazigou, E" uniqKey="Bazigou E">E Bazigou</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chennakesava, Cs" uniqKey="Chennakesava C">CS Chennakesava</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Red Horse, K" uniqKey="Red Horse K">K Red-Horse</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Turner, Cj" uniqKey="Turner C">CJ Turner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hess, Pr" uniqKey="Hess P">PR Hess</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bazigou, E" uniqKey="Bazigou E">E Bazigou</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="Kazenwadel, J" uniqKey="Kazenwadel J">J Kazenwadel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Brice, G" uniqKey="Brice G">G Brice</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mellor, Rh" uniqKey="Mellor R">RH Mellor</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Karkkainen, Mj" uniqKey="Karkkainen M">MJ Karkkainen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Seiradake, E" uniqKey="Seiradake E">E Seiradake</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schaupp, A" uniqKey="Schaupp A">A Schaupp</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zimmer, M" uniqKey="Zimmer M">M Zimmer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Quinlan, Ar" uniqKey="Quinlan A">AR Quinlan</name></author><author><name sortKey="Hall, Im" uniqKey="Hall I">IM 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, Ma" uniqKey="Simpson M">MA Simpson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wang, K" uniqKey="Wang K">K Wang</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><biblStruct><analytic><author><name sortKey="Muzumdar, Md" uniqKey="Muzumdar M">MD Muzumdar</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Datsenko, Ka" uniqKey="Datsenko K">KA Datsenko</name></author><author><name sortKey="Wanner, Bl" uniqKey="Wanner B">BL Wanner</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Norvège</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suède</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Californie</li><li>East Middle Sweden</li><li>Grand Londres</li><li>Gueldre</li><li>Svealand</li></region><settlement><li>Londres</li><li>Nimègue</li><li>Uppsala</li></settlement><orgName><li>Université d'Uppsala</li><li>Université de Londres</li></orgName></list><tree><noCountry><name sortKey="Rockson, Stanley G" sort="Rockson, Stanley G" uniqKey="Rockson S" first="Stanley G." last="Rockson">Stanley G. Rockson</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Martin Almedina, Silvia" sort="Martin Almedina, Silvia" uniqKey="Martin Almedina S" first="Silvia" last="Martin-Almedina">Silvia Martin-Almedina</name></region><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="Fotiou, Elisavet" sort="Fotiou, Elisavet" uniqKey="Fotiou E" first="Elisavet" last="Fotiou">Elisavet Fotiou</name><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name><name sortKey="Jeffery, Heather" sort="Jeffery, Heather" uniqKey="Jeffery H" first="Heather" last="Jeffery">Heather Jeffery</name><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><name sortKey="Karapouliou, Christina" sort="Karapouliou, Christina" uniqKey="Karapouliou C" first="Christina" last="Karapouliou">Christina Karapouliou</name><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</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="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A." last="Simpson">Michael A. Simpson</name><name sortKey="Vicente, Andres" sort="Vicente, Andres" uniqKey="Vicente A" first="Andres" last="Vicente">Andres Vicente</name></country><country name="Suède"><region name="Svealand"><name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name></region><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name><name sortKey="Wedin, Marianne" sort="Wedin, Marianne" uniqKey="Wedin M" first="Marianne" last="Wedin">Marianne Wedin</name><name sortKey="Wiseman, John W" sort="Wiseman, John W" uniqKey="Wiseman J" first="John W." last="Wiseman">John W. Wiseman</name></country><country name="Norvège"><noRegion><name sortKey="Holdhus, Rita" sort="Holdhus, Rita" uniqKey="Holdhus R" first="Rita" last="Holdhus">Rita Holdhus</name></noRegion><name sortKey="Berland, Siren" sort="Berland, Siren" uniqKey="Berland S" first="Siren" last="Berland">Siren Berland</name><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name><name sortKey="Petersen, Kjell" sort="Petersen, Kjell" uniqKey="Petersen K" first="Kjell" last="Petersen">Kjell Petersen</name></country><country name="États-Unis"><region name="Californie"><name sortKey="Lin, Shin" sort="Lin, Shin" uniqKey="Lin S" first="Shin" last="Lin">Shin Lin</name></region><name sortKey="Snyder, Michael P" sort="Snyder, Michael P" uniqKey="Snyder M" first="Michael P." last="Snyder">Michael P. Snyder</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name></region><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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