A novel VEGFR3 mutation causes Milroy disease
Identifieur interne : 007684 ( Main/Exploration ); précédent : 007683; suivant : 007685A novel VEGFR3 mutation causes Milroy disease
Auteurs : Matthew G. Butler [États-Unis] ; Susan L. Dagenais [États-Unis] ; Stanley G. Rockson [États-Unis] ; Thomas W. Glover [États-Unis]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2007-06-01.
Descripteurs français
- KwdFr :
- Analyse de mutations d'ADN, Données de séquences moléculaires, Exons (génétique), Femelle, Humains, Lymphoedème (génétique), Mutation (génétique), Mâle, Pedigree, Récepteur-3 au facteur croissance endothéliale vasculaire (), Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Séquence conservée, Séquence d'acides aminés, Séquence nucléotidique.
- MESH :
- génétique : Exons, Lymphoedème, Mutation, Récepteur-3 au facteur croissance endothéliale vasculaire.
- Analyse de mutations d'ADN, Données de séquences moléculaires, Femelle, Humains, Mâle, Pedigree, Récepteur-3 au facteur croissance endothéliale vasculaire, Séquence conservée, Séquence d'acides aminés, Séquence nucléotidique.
English descriptors
- KwdEn :
- Amino Acid Sequence, Base Sequence, Conserved Sequence, DNA Mutational Analysis, Exons (genetics), Female, Humans, Lymphedema (genetics), Male, Molecular Sequence Data, Mutation (genetics), Pedigree, Vascular Endothelial Growth Factor Receptor-3 (chemistry), Vascular Endothelial Growth Factor Receptor-3 (genetics).
- MESH :
- chemical , chemistry : Vascular Endothelial Growth Factor Receptor-3.
- genetics : Exons, Lymphedema, Mutation, Vascular Endothelial Growth Factor Receptor-3.
- Amino Acid Sequence, Base Sequence, Conserved Sequence, DNA Mutational Analysis, Female, Humans, Male, Molecular Sequence Data, Pedigree.
Abstract
Milroy disease, also known as primary congenital lymphedema, is a hereditary form of lymphedema with autosomal dominant inheritance. Individuals with Milroy disease are typically characterized by congenital onset of lymphedema of the lower limbs due to hypoplasia of the lymphatic vessels. The genetic basis of most cases of Milroy disease has not been established, although mutations in the vascular endothelial growth factor receptor VEGFR3 (FLT‐4) are responsible for some cases with 17 mutations described to date. In this report, we describe a novel VEGFR3 mutation in exon 22 in a four‐generation family in which congenital lymphedema segregates in an autosomal dominant manner. In addition to lymphedema, affected family members had other clinical manifestations associated with Milroy disease including hydrocele, ski jump toenails, large caliber veins, and subcutaneous thickening. We screened VEGFR3 for mutations which revealed a novel 3059A > T transversion in exon 22 resulting in Q1020L missense mutation in the second tyrosine kinase domain of VEGFR3. This mutant allele segregated with lymphedema among affected individuals with incomplete penetrance. This is the first report of an exon 22 mutation in Milroy disease. © 2007 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.31703
Affiliations:
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Dagenais</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Human Genetics, University of Michigan, Ann Arbor</wicri:cityArea></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="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Stanford School of Medicine, Stanford University, Stanford</wicri:cityArea></affiliation></author><author><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W." last="Glover">Thomas W. Glover</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Human Genetics, University of Michigan, Ann Arbor</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Pediatrics, University of Michigan, Ann Arbor</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">143A</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1212">1212</biblScope><biblScope unit="page" to="1217">1217</biblScope><biblScope unit="page-count">6</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-06-01">2007-06-01</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Sequence</term><term>Base Sequence</term><term>Conserved Sequence</term><term>DNA Mutational Analysis</term><term>Exons (genetics)</term><term>Female</term><term>Humans</term><term>Lymphedema (genetics)</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation (genetics)</term><term>Pedigree</term><term>Vascular Endothelial Growth Factor Receptor-3 (chemistry)</term><term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Données de séquences moléculaires</term><term>Exons (génétique)</term><term>Femelle</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Pedigree</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire ()</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term><term>Séquence conservée</term><term>Séquence d'acides aminés</term><term>Séquence nucléotidique</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>Vascular Endothelial Growth Factor Receptor-3</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Lymphedema</term><term>Mutation</term><term>Vascular Endothelial Growth Factor Receptor-3</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Exons</term><term>Lymphoedème</term><term>Mutation</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term><term>Base Sequence</term><term>Conserved Sequence</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term><term>Molecular Sequence Data</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse de mutations d'ADN</term><term>Données de séquences moléculaires</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Pedigree</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term><term>Séquence conservée</term><term>Séquence d'acides aminés</term><term>Séquence nucléotidique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Milroy disease, also known as primary congenital lymphedema, is a hereditary form of lymphedema with autosomal dominant inheritance. Individuals with Milroy disease are typically characterized by congenital onset of lymphedema of the lower limbs due to hypoplasia of the lymphatic vessels. The genetic basis of most cases of Milroy disease has not been established, although mutations in the vascular endothelial growth factor receptor VEGFR3 (FLT‐4) are responsible for some cases with 17 mutations described to date. In this report, we describe a novel VEGFR3 mutation in exon 22 in a four‐generation family in which congenital lymphedema segregates in an autosomal dominant manner. In addition to lymphedema, affected family members had other clinical manifestations associated with Milroy disease including hydrocele, ski jump toenails, large caliber veins, and subcutaneous thickening. We screened VEGFR3 for mutations which revealed a novel 3059A > T transversion in exon 22 resulting in Q1020L missense mutation in the second tyrosine kinase domain of VEGFR3. This mutant allele segregated with lymphedema among affected individuals with incomplete penetrance. This is the first report of an exon 22 mutation in Milroy disease. © 2007 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Californie</li><li>Michigan</li></region></list><tree><country name="États-Unis"><region name="Michigan"><name sortKey="Butler, Matthew G" sort="Butler, Matthew G" uniqKey="Butler M" first="Matthew G." last="Butler">Matthew G. Butler</name></region><name sortKey="Butler, Matthew G" sort="Butler, Matthew G" uniqKey="Butler M" first="Matthew G." last="Butler">Matthew G. Butler</name><name sortKey="Dagenais, Susan L" sort="Dagenais, Susan L" uniqKey="Dagenais S" first="Susan L." last="Dagenais">Susan L. Dagenais</name><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W." last="Glover">Thomas W. Glover</name><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W." last="Glover">Thomas W. Glover</name><name sortKey="Rockson, Stanley G" sort="Rockson, Stanley G" uniqKey="Rockson S" first="Stanley G." last="Rockson">Stanley G. Rockson</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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