Milroy disease and the VEGFR-3 mutation phenotype
Identifieur interne : 004C56 ( Pmc/Corpus ); précédent : 004C55; suivant : 004C57Milroy disease and the VEGFR-3 mutation phenotype
Auteurs : G. Brice ; A. Child ; A. Evans ; R. Bell ; S. Mansour ; K. Burnand ; M. Sarfarazi ; S. Jeffery ; P. MortimerSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2005.
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 (
Url:
DOI: 10.1136/jmg.2004.024802
PubMed: 15689446
PubMed Central: 1735984
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PMC:1735984Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Milroy disease and the <italic>VEGFR-3</italic>
mutation phenotype</title>
<author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name>
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<author><name sortKey="Child, A" sort="Child, A" uniqKey="Child A" first="A" last="Child">A. Child</name>
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<author><name sortKey="Evans, A" sort="Evans, A" uniqKey="Evans A" first="A" last="Evans">A. Evans</name>
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<author><name sortKey="Bell, R" sort="Bell, R" uniqKey="Bell R" first="R" last="Bell">R. Bell</name>
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<author><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. Mansour</name>
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<author><name sortKey="Burnand, K" sort="Burnand, K" uniqKey="Burnand K" first="K" last="Burnand">K. Burnand</name>
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<author><name sortKey="Sarfarazi, M" sort="Sarfarazi, M" uniqKey="Sarfarazi M" first="M" last="Sarfarazi">M. Sarfarazi</name>
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<author><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name>
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<author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P" last="Mortimer">P. Mortimer</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Milroy disease and the <italic>VEGFR-3</italic>
mutation phenotype</title>
<author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name>
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<author><name sortKey="Child, A" sort="Child, A" uniqKey="Child A" first="A" last="Child">A. Child</name>
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<author><name sortKey="Evans, A" sort="Evans, A" uniqKey="Evans A" first="A" last="Evans">A. Evans</name>
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<author><name sortKey="Bell, R" sort="Bell, R" uniqKey="Bell R" first="R" last="Bell">R. Bell</name>
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<author><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. Mansour</name>
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<author><name sortKey="Burnand, K" sort="Burnand, K" uniqKey="Burnand K" first="K" last="Burnand">K. Burnand</name>
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<author><name sortKey="Sarfarazi, M" sort="Sarfarazi, M" uniqKey="Sarfarazi M" first="M" last="Sarfarazi">M. Sarfarazi</name>
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<author><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name>
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<author><name sortKey="Mortimer, P" sort="Mortimer, P" uniqKey="Mortimer P" first="P" last="Mortimer">P. Mortimer</name>
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<series><title level="j">Journal of Medical Genetics</title>
<idno type="ISSN">0022-2593</idno>
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<front><div type="abstract" xml:lang="en"><p> 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 (<italic>VEGFR-3</italic>
) 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 <italic>VEGFR-3</italic>
. Ninety per cent of the 71 individuals carrying a <italic>VEGFR-3</italic>
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 <italic>VEGFR-3</italic>
mutations. </p>
</div>
</front>
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<pmc xml:lang="EN" article-type="review-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id>
<journal-title>Journal of Medical Genetics</journal-title>
<issn pub-type="ppub">0022-2593</issn>
<issn pub-type="epub">1468-6244</issn>
<publisher><publisher-name>BMJ Group</publisher-name>
</publisher>
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<article-meta><article-id pub-id-type="pmid">15689446</article-id>
<article-id pub-id-type="pmc">1735984</article-id>
<article-id pub-id-type="doi">10.1136/jmg.2004.024802</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Review</subject>
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<title-group><article-title>Milroy disease and the <italic>VEGFR-3</italic>
mutation phenotype</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Brice</surname>
<given-names>G</given-names>
</name>
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<contrib contrib-type="author"><name><surname>Child</surname>
<given-names>A</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Evans</surname>
<given-names>A</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Bell</surname>
<given-names>R</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Mansour</surname>
<given-names>S</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Burnand</surname>
<given-names>K</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Sarfarazi</surname>
<given-names>M</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Jeffery</surname>
<given-names>S</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Mortimer</surname>
<given-names>P</given-names>
</name>
</contrib>
</contrib-group>
<aff>SW Thames Regional Genetics Unit, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK.<email>gbrice@sghms.ac.uk</email>
</aff>
<pub-date pub-type="ppub"><month>2</month>
<year>2005</year>
</pub-date>
<volume>42</volume>
<issue>2</issue>
<fpage>98</fpage>
<lpage>102</lpage>
<self-uri xlink:role="pdf" xlink:type="simple" xlink:href="http://jmg.bmj.com/cgi/reprint/42/2/98.pdf"></self-uri>
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<abstract><p> 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 (<italic>VEGFR-3</italic>
) 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 <italic>VEGFR-3</italic>
. Ninety per cent of the 71 individuals carrying a <italic>VEGFR-3</italic>
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 <italic>VEGFR-3</italic>
mutations. </p>
</abstract>
</article-meta>
</front>
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</record>
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