Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.
Identifieur interne : 007794 ( Main/Exploration ); précédent : 007793; suivant : 007795Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.
Auteurs : Ronen Spiegel [Israël] ; Arash Ghalamkarpour ; Etty Daniel-Spiegel ; Miikka Vikkula ; Stavit A. ShalevSource :
- Journal of human genetics [ 1434-5161 ] ; 2006.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Enfant, Femelle, Humains, Lymphoedème (), Lymphoedème (diagnostic), Lymphoedème (génétique), Mutation faux-sens, Mâle, Nourrisson, Nouveau-né, Pedigree, Phénotype, Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Santé de la famille, Sujet âgé, TYK2 Kinase (génétique).
- MESH :
- diagnostic : Lymphoedème.
- génétique : Lymphoedème, Récepteur-3 au facteur croissance endothéliale vasculaire, TYK2 Kinase.
- Adolescent, Adulte, Adulte d'âge moyen, Enfant, Femelle, Humains, Lymphoedème, Mutation faux-sens, Mâle, Nourrisson, Nouveau-né, Pedigree, Phénotype, Santé de la famille, Sujet âgé.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Child, Family Health, Female, Humans, Infant, Infant, Newborn, Lymphedema (congenital), Lymphedema (diagnosis), Lymphedema (genetics), Male, Middle Aged, Mutation, Missense, Pedigree, Phenotype, TYK2 Kinase (genetics), Vascular Endothelial Growth Factor Receptor-3 (genetics).
- MESH :
- chemical , genetics : TYK2 Kinase, Vascular Endothelial Growth Factor Receptor-3.
- congenital : Lymphedema.
- diagnosis : Lymphedema.
- genetics : Lymphedema.
- Adolescent, Adult, Aged, Child, Family Health, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Mutation, Missense, Pedigree, Phenotype.
Abstract
Hereditary lymphedema type I (HL-I), also known as Milroy disease, is an autosomal dominant disorder characterized by typical phenotype of infantile onset lower-limb lymphedema accompanied by variable expression of recurrent episodes of cellulites, toenail changes, and papillomatosis. Mutations in the vascular endothelial growth factor receptor 3 (VEGFR3), also known as FLT4 gene, which encodes a lymphatic endothelial-specific tyrosine kinase receptor, have been identified as a genetic cause of HL-I. We report a large Muslim Arab family residing in northern Israel with 14 individuals presenting clinical features of HL-I. Genetic analysis revealed novel missense mutation E1106K in the tyrosine kinase domain II of VEGFR3 that cosegregates with the disorder in the family. Most affected individuals presented with bilateral congenital lower-limb lymphedema. Wide intrafamilial phenotypic variability included two asymptomatic individuals, a case of prenatal hydrothorax evolving to hydrops fetalis, and a late-onset complication, yet unreported, of chronic degenerative joint disease of the knees. This report broadens the known "classic" phenotype of HL-I.
DOI: 10.1007/s10038-006-0031-3
PubMed: 16924388
Affiliations:
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Le document en format XML
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Shalev</name></author></analytic><series><title level="j">Journal of human genetics</title><idno type="ISSN">1434-5161</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Lymphedema (congenital)</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Pedigree</term><term>Phenotype</term><term>TYK2 Kinase (genetics)</term><term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Lymphoedème ()</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Mutation faux-sens</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Pedigree</term><term>Phénotype</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term><term>Santé de la famille</term><term>Sujet âgé</term><term>TYK2 Kinase (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>TYK2 Kinase</term><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="diagnosis" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Lymphoedème</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><term>TYK2 Kinase</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Pedigree</term><term>Phenotype</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Lymphoedème</term><term>Mutation faux-sens</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Pedigree</term><term>Phénotype</term><term>Santé de la famille</term><term>Sujet âgé</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hereditary lymphedema type I (HL-I), also known as Milroy disease, is an autosomal dominant disorder characterized by typical phenotype of infantile onset lower-limb lymphedema accompanied by variable expression of recurrent episodes of cellulites, toenail changes, and papillomatosis. Mutations in the vascular endothelial growth factor receptor 3 (VEGFR3), also known as FLT4 gene, which encodes a lymphatic endothelial-specific tyrosine kinase receptor, have been identified as a genetic cause of HL-I. We report a large Muslim Arab family residing in northern Israel with 14 individuals presenting clinical features of HL-I. Genetic analysis revealed novel missense mutation E1106K in the tyrosine kinase domain II of VEGFR3 that cosegregates with the disorder in the family. Most affected individuals presented with bilateral congenital lower-limb lymphedema. Wide intrafamilial phenotypic variability included two asymptomatic individuals, a case of prenatal hydrothorax evolving to hydrops fetalis, and a late-onset complication, yet unreported, of chronic degenerative joint disease of the knees. This report broadens the known "classic" phenotype of HL-I.</div></front></TEI><affiliations><list><country><li>Israël</li></country></list><tree><noCountry><name sortKey="Daniel Spiegel, Etty" sort="Daniel Spiegel, Etty" uniqKey="Daniel Spiegel E" first="Etty" last="Daniel-Spiegel">Etty Daniel-Spiegel</name><name sortKey="Ghalamkarpour, Arash" sort="Ghalamkarpour, Arash" uniqKey="Ghalamkarpour A" first="Arash" last="Ghalamkarpour">Arash Ghalamkarpour</name><name sortKey="Shalev, Stavit A" sort="Shalev, Stavit A" uniqKey="Shalev S" first="Stavit A" last="Shalev">Stavit A. Shalev</name><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name></noCountry><country name="Israël"><noRegion><name sortKey="Spiegel, Ronen" sort="Spiegel, Ronen" uniqKey="Spiegel R" first="Ronen" last="Spiegel">Ronen Spiegel</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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