Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations
Identifieur interne : 007C54 ( Main/Exploration ); précédent : 007C53; suivant : 007C55Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations
Auteurs : A. Ghalamkarpour [Belgique] ; S. Morlot [Allemagne] ; A. Raas-Rothschild [Israël] ; A. Utkus [Lituanie] ; Jb Mulliken [États-Unis] ; Lm Boon [Belgique] ; M. Vikkula [Belgique]Source :
- Clinical Genetics [ 0009-9163 ] ; 2006-10.
Descripteurs français
- KwdFr :
- Données de séquences moléculaires, Exons, Humains, Lymphoedème (), Lymphoedème (génétique), Maladies foetales (génétique), Mutation, Pedigree, Prédisposition génétique à une maladie, Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Séquence d'acides aminés, Éléphantiasis (génétique), Épanchement pleural (embryologie), Épanchement pleural (génétique).
- MESH :
- embryologie : Épanchement pleural.
- génétique : Lymphoedème, Maladies foetales, Récepteur-3 au facteur croissance endothéliale vasculaire, Éléphantiasis, Épanchement pleural.
- Données de séquences moléculaires, Exons, Humains, Lymphoedème, Mutation, Pedigree, Prédisposition génétique à une maladie, Séquence d'acides aminés.
- Pascal (Inist)
- Wicri :
- topic : Association, Génétique, Homme, Maladie.
English descriptors
- KwdEn :
- Amino Acid Sequence, Association, Atypical, Case study, De novo, Disease, Elephantiasis (genetics), Exons, Fetal Diseases (genetics), Genetic Predisposition to Disease, Genetics, Hereditary, Human, Humans, Lymphedema, Lymphedema (congenital), Lymphedema (genetics), Molecular Sequence Data, Mutation, Pedigree, Pleural Effusion (embryology), Pleural Effusion (genetics), Vascular Endothelial Growth Factor Receptor-3 (genetics).
- MESH :
- chemical , genetics : Vascular Endothelial Growth Factor Receptor-3.
- congenital : Lymphedema.
- embryology : Pleural Effusion.
- genetics : Elephantiasis, Fetal Diseases, Lymphedema, Pleural Effusion.
- Amino Acid Sequence, Exons, Genetic Predisposition to Disease, Humans, Molecular Sequence Data, Mutation, Pedigree.
Abstract
Mutations in the vascular endothelial growth factor receptor 3 gene, VEGFR3/FLT4, have been identified in a subset of families with hereditary lymphedema type I or Milroy disease (MIM 153100). Individuals carrying a VEGFR3 mutation exhibit congenital edema of the lower limbs, usually bilaterally and below the knees, sometimes associated with cellulitis, prominent veins, papillomatosis, upturned toenails, and hydrocele. In this study, we report the first de novo VEGFR3 mutation in a patient with sporadic congenital lymphedema. We also describe three other families with a VEGFR3 mutation. In each family, one individual had an atypical clinical presentation of hereditary lymphedema type I, whereas the others had the classical VEGFR3 mutation‐caused phenotype. The atypical presentations included pre‐natal pleural effusion, spontaneous resorption of lymphedema and elephantiasis. Three of the four identified mutations were novel. These data show that de novo VEGFR3 mutations may be present in patients without family history of congenital lymphedema. This has implications for follow‐up care, as such individuals have nearly a 50% risk for occurrence of lymphedema in their children. Our findings also indicate that although most patients with a VEGFR3 mutation have the well‐defined phenotype for hereditary lymphedema type I, there are exceptions that should be considered in genetic counseling. Because VEGFR3 mutation can cause generalized lymphatic dysfunction and can thus result in hydrops fetalis, VEGFR3 screening should be added to the investigation of cases of hydrops fetalis of an unknown etiology.
Url:
DOI: 10.1111/j.1399-0004.2006.00687.x
Affiliations:
- Allemagne, Belgique, Israël, Lituanie, États-Unis
- Basse-Saxe, Massachusetts, Région de Bruxelles-Capitale
- Bruxelles, Hanovre, Louvain-la-Neuve
- Université catholique de Louvain
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Le document en format XML
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Morlot</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Praxis für Humangenetik, Aerztliche Partnerschaft WagnerStibbe, Hannover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation></author><author><name sortKey="Raas Othschild, A" sort="Raas Othschild, A" uniqKey="Raas Othschild A" first="A" last="Raas-Rothschild">A. Raas-Rothschild</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem</wicri:regionArea><wicri:noRegion>Jerusalem</wicri:noRegion></affiliation></author><author><name sortKey="Utkus, A" sort="Utkus, A" uniqKey="Utkus A" first="A" last="Utkus">A. 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Vikkula</name><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Belgique</country></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><biblScope unit="vol">70</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="330">330</biblScope><biblScope unit="page" to="335">335</biblScope><biblScope unit="page-count">6</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2006-10">2006-10</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Sequence</term><term>Association</term><term>Atypical</term><term>Case study</term><term>De novo</term><term>Disease</term><term>Elephantiasis (genetics)</term><term>Exons</term><term>Fetal Diseases (genetics)</term><term>Genetic Predisposition to Disease</term><term>Genetics</term><term>Hereditary</term><term>Human</term><term>Humans</term><term>Lymphedema</term><term>Lymphedema (congenital)</term><term>Lymphedema (genetics)</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Pedigree</term><term>Pleural Effusion (embryology)</term><term>Pleural Effusion (genetics)</term><term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Données de séquences moléculaires</term><term>Exons</term><term>Humains</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Maladies foetales (génétique)</term><term>Mutation</term><term>Pedigree</term><term>Prédisposition génétique à une maladie</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term><term>Séquence d'acides aminés</term><term>Éléphantiasis (génétique)</term><term>Épanchement pleural (embryologie)</term><term>Épanchement pleural (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vascular Endothelial Growth Factor Receptor-3</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="embryologie" xml:lang="fr"><term>Épanchement pleural</term></keywords><keywords scheme="MESH" qualifier="embryology" xml:lang="en"><term>Pleural Effusion</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Elephantiasis</term><term>Fetal Diseases</term><term>Lymphedema</term><term>Pleural Effusion</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term><term>Maladies foetales</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term><term>Éléphantiasis</term><term>Épanchement pleural</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term><term>Exons</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Données de séquences moléculaires</term><term>Exons</term><term>Humains</term><term>Lymphoedème</term><term>Mutation</term><term>Pedigree</term><term>Prédisposition génétique à une maladie</term><term>Séquence d'acides aminés</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Association</term><term>Atypique</term><term>De novo</term><term>Etude cas</term><term>Génétique</term><term>Homme</term><term>Héréditaire</term><term>Lymphoedème</term><term>Maladie</term><term>Mutation</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Association</term><term>Génétique</term><term>Homme</term><term>Maladie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the vascular endothelial growth factor receptor 3 gene, VEGFR3/FLT4, have been identified in a subset of families with hereditary lymphedema type I or Milroy disease (MIM 153100). Individuals carrying a VEGFR3 mutation exhibit congenital edema of the lower limbs, usually bilaterally and below the knees, sometimes associated with cellulitis, prominent veins, papillomatosis, upturned toenails, and hydrocele. In this study, we report the first de novo VEGFR3 mutation in a patient with sporadic congenital lymphedema. We also describe three other families with a VEGFR3 mutation. In each family, one individual had an atypical clinical presentation of hereditary lymphedema type I, whereas the others had the classical VEGFR3 mutation‐caused phenotype. The atypical presentations included pre‐natal pleural effusion, spontaneous resorption of lymphedema and elephantiasis. Three of the four identified mutations were novel. These data show that de novo VEGFR3 mutations may be present in patients without family history of congenital lymphedema. This has implications for follow‐up care, as such individuals have nearly a 50% risk for occurrence of lymphedema in their children. Our findings also indicate that although most patients with a VEGFR3 mutation have the well‐defined phenotype for hereditary lymphedema type I, there are exceptions that should be considered in genetic counseling. Because VEGFR3 mutation can cause generalized lymphatic dysfunction and can thus result in hydrops fetalis, VEGFR3 screening should be added to the investigation of cases of hydrops fetalis of an unknown etiology.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Belgique</li><li>Israël</li><li>Lituanie</li><li>États-Unis</li></country><region><li>Basse-Saxe</li><li>Massachusetts</li><li>Région de Bruxelles-Capitale</li></region><settlement><li>Bruxelles</li><li>Hanovre</li><li>Louvain-la-Neuve</li></settlement><orgName><li>Université catholique de Louvain</li></orgName></list><tree><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Ghalamkarpour, A" sort="Ghalamkarpour, A" uniqKey="Ghalamkarpour A" first="A" last="Ghalamkarpour">A. Ghalamkarpour</name></region><name sortKey="Boon, Lm" sort="Boon, Lm" uniqKey="Boon L" first="Lm" last="Boon">Lm Boon</name><name sortKey="Boon, Lm" sort="Boon, Lm" uniqKey="Boon L" first="Lm" last="Boon">Lm Boon</name><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. Vikkula</name><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. Vikkula</name></country><country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Morlot, S" sort="Morlot, S" uniqKey="Morlot S" first="S" last="Morlot">S. Morlot</name></region></country><country name="Israël"><noRegion><name sortKey="Raas Othschild, A" sort="Raas Othschild, A" uniqKey="Raas Othschild A" first="A" last="Raas-Rothschild">A. Raas-Rothschild</name></noRegion></country><country name="Lituanie"><noRegion><name sortKey="Utkus, A" sort="Utkus, A" uniqKey="Utkus A" first="A" last="Utkus">A. Utkus</name></noRegion></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Mulliken, Jb" sort="Mulliken, Jb" uniqKey="Mulliken J" first="Jb" last="Mulliken">Jb Mulliken</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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