Milroy disease and the VEGFR-3 mutation phenotype
Identifieur interne : 008274 ( Main/Exploration ); précédent : 008273; suivant : 008275Milroy disease and the VEGFR-3 mutation phenotype
Auteurs : G. Brice [Royaume-Uni] ; A H Child [Royaume-Uni] ; A. Evans [Royaume-Uni] ; R. Bell [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; K. Burnand [Royaume-Uni] ; M. Sarfarazi [États-Unis] ; S. Jeffery [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2005-02.
Descripteurs français
- KwdFr :
- Adulte, Détection d'hétérozygote, Femelle, Humains, Lymphoedème (diagnostic), Lymphoedème (génétique), Lymphoedème (épidémiologie), Malformations urogénitales (diagnostic), Mutation, Mâle, Ongles malformés, Papillome (anatomopathologie), Phénotype, Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Varices (diagnostic), Veine saphène (anatomopathologie), Âge de début.
- MESH :
- anatomopathologie : Papillome, Veine saphène.
- diagnostic : Lymphoedème, Malformations urogénitales, Varices.
- génétique : Lymphoedème, Récepteur-3 au facteur croissance endothéliale vasculaire.
- épidémiologie : Lymphoedème.
- Adulte, Détection d'hétérozygote, Femelle, Humains, Mutation, Mâle, Ongles malformés, Phénotype, Âge de début.
English descriptors
- KwdEn :
- Adult, Age of Onset, Female, Heterozygote Detection, Humans, Lymphedema (diagnosis), Lymphedema (epidemiology), Lymphedema (genetics), Male, Milroy disease, Mutation, Nails, Malformed, Papilloma (pathology), Phenotype, Saphenous Vein (pathology), Urogenital Abnormalities (diagnosis), VEGFR-3, VEGFR-3, vascular endothelial growth factor receptor 3, Varicose Veins (diagnosis), Vascular Endothelial Growth Factor Receptor-3 (genetics), hydrocoele, lymphoedema.
- MESH :
- chemical , genetics : Vascular Endothelial Growth Factor Receptor-3.
- diagnosis : Lymphedema, Urogenital Abnormalities, Varicose Veins.
- epidemiology : Lymphedema.
- genetics : Lymphedema.
- pathology : Papilloma, Saphenous Vein.
- Adult, Age of Onset, Female, Heterozygote Detection, Humans, Male, Mutation, Nails, Malformed, Phenotype.
Abstract
Primary congenital lymphoedema (Milroy disease) is a rare autosomal dominant condition for which a major causative gene defect has recently been determined. Mutations in the vascular endothelial growth factor receptor 3 (VEGFR-3) gene have now been described in 13 families world-wide. This is a review of the condition based on the clinical findings in 71 subjects from 10 families. All 71 individuals have a mutation in VEGFR-3. Ninety per cent of the 71 individuals carrying a VEGFR-3 mutation showed signs of oedema, which was confined in all cases to the lower limbs. In all but two cases onset of swelling was from birth. Other symptoms and signs included cellulitis (20%), large calibre leg veins (23%), papillomatosis (10%), and upslanting toenails (10%). In males, hydrocoele was the next most common finding after oedema (37%). Thorough clinical examination of these patients indicates that there are few clinical signs in addition to lower limb oedema. Rigorous phenotyping of patients produces a high yield of VEGFR-3 mutations.
Url:
- https://api.istex.fr/document/D36BFD8DBFFE24F675C4ECA8C5FAFF324F2AF68B/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735984
DOI: 10.1136/jmg.2004.024802
Affiliations:
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Brice</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Unit, St George’s Hospital Medical School, 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="Child, A H" sort="Child, A H" uniqKey="Child A" first="A H" last="Child">A H Child</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardiological Sciences, St George’s Hospital Medical School, 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="Evans, A" sort="Evans, A" uniqKey="Evans A" first="A" last="Evans">A. Evans</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardiological Sciences, St George’s Hospital Medical School, 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="Bell, R" sort="Bell, R" uniqKey="Bell R" first="R" last="Bell">R. Bell</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Unit, St George’s Hospital Medical School, 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="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. 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type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2005-02">2005-02</date><biblScope unit="volume">42</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="98">98</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">D36BFD8DBFFE24F675C4ECA8C5FAFF324F2AF68B</idno><idno type="DOI">10.1136/jmg.2004.024802</idno><idno type="href">jmedgenet-42-98.pdf</idno><idno type="PMID">15689446</idno><idno type="local">0420098</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Female</term><term>Heterozygote Detection</term><term>Humans</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (epidemiology)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Milroy disease</term><term>Mutation</term><term>Nails, Malformed</term><term>Papilloma (pathology)</term><term>Phenotype</term><term>Saphenous Vein (pathology)</term><term>Urogenital Abnormalities (diagnosis)</term><term>VEGFR-3</term><term>VEGFR-3, vascular endothelial growth factor receptor 3</term><term>Varicose Veins (diagnosis)</term><term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term><term>hydrocoele</term><term>lymphoedema</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Détection d'hétérozygote</term><term>Femelle</term><term>Humains</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (épidémiologie)</term><term>Malformations urogénitales (diagnostic)</term><term>Mutation</term><term>Mâle</term><term>Ongles malformés</term><term>Papillome (anatomopathologie)</term><term>Phénotype</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term><term>Varices (diagnostic)</term><term>Veine saphène (anatomopathologie)</term><term>Âge de début</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="anatomopathologie" xml:lang="fr"><term>Papillome</term><term>Veine saphène</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Lymphedema</term><term>Urogenital Abnormalities</term><term>Varicose Veins</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Lymphoedème</term><term>Malformations urogénitales</term><term>Varices</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Papilloma</term><term>Saphenous Vein</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Lymphoedème</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Female</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Nails, Malformed</term><term>Phenotype</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Détection d'hétérozygote</term><term>Femelle</term><term>Humains</term><term>Mutation</term><term>Mâle</term><term>Ongles malformés</term><term>Phénotype</term><term>Âge de début</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Primary congenital lymphoedema (Milroy disease) is a rare autosomal dominant condition for which a major causative gene defect has recently been determined. Mutations in the vascular endothelial growth factor receptor 3 (VEGFR-3) gene have now been described in 13 families world-wide. This is a review of the condition based on the clinical findings in 71 subjects from 10 families. All 71 individuals have a mutation in VEGFR-3. Ninety per cent of the 71 individuals carrying a VEGFR-3 mutation showed signs of oedema, which was confined in all cases to the lower limbs. In all but two cases onset of swelling was from birth. Other symptoms and signs included cellulitis (20%), large calibre leg veins (23%), papillomatosis (10%), and upslanting toenails (10%). In males, hydrocoele was the next most common finding after oedema (37%). Thorough clinical examination of these patients indicates that there are few clinical signs in addition to lower limb oedema. Rigorous phenotyping of patients produces a high yield of VEGFR-3 mutations.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Connecticut</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>Université de Londres</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name></region><name sortKey="Bell, R" sort="Bell, R" uniqKey="Bell R" first="R" last="Bell">R. Bell</name><name sortKey="Burnand, K" sort="Burnand, K" uniqKey="Burnand K" first="K" last="Burnand">K. Burnand</name><name sortKey="Child, A H" sort="Child, A H" uniqKey="Child A" first="A H" last="Child">A H Child</name><name sortKey="Evans, A" sort="Evans, A" uniqKey="Evans A" first="A" last="Evans">A. Evans</name><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. Mansour</name><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P" last="Mortimer">Peter Mortimer (dermatologue)</name></country><country name="États-Unis"><region name="Connecticut"><name sortKey="Sarfarazi, M" sort="Sarfarazi, M" uniqKey="Sarfarazi M" first="M" last="Sarfarazi">M. Sarfarazi</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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