A novel VEGFR3 mutation causes Milroy disease.
Identifieur interne : 002675 ( Ncbi/Merge ); précédent : 002674; suivant : 002676A novel VEGFR3 mutation causes Milroy disease.
Auteurs : Matthew G. Butler [États-Unis] ; Susan L. Dagenais ; Stanley G. Rockson ; Thomas W. GloverSource :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2007.
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.
DOI: 10.1002/ajmg.a.31703
PubMed: 17458866
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 003683
- to stream PubMed, to step Curation: 003683
- to stream PubMed, to step Checkpoint: 003683
Links to Exploration step
pubmed:17458866Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A novel VEGFR3 mutation causes Milroy disease.</title><author><name sortKey="Butler, Matthew G" sort="Butler, Matthew G" uniqKey="Butler M" first="Matthew G" last="Butler">Matthew G. Butler</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-0618, USA. butlerm@umich.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-0618</wicri:regionArea><wicri:noRegion>Michigan 48109-0618</wicri:noRegion></affiliation></author><author><name sortKey="Dagenais, Susan L" sort="Dagenais, Susan L" uniqKey="Dagenais S" first="Susan L" last="Dagenais">Susan L. Dagenais</name></author><author><name sortKey="Rockson, Stanley G" sort="Rockson, Stanley G" uniqKey="Rockson S" first="Stanley G" last="Rockson">Stanley G. Rockson</name></author><author><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W" last="Glover">Thomas W. Glover</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="RBID">pubmed:17458866</idno><idno type="pmid">17458866</idno><idno type="doi">10.1002/ajmg.a.31703</idno><idno type="wicri:Area/PubMed/Corpus">003683</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003683</idno><idno type="wicri:Area/PubMed/Curation">003683</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003683</idno><idno type="wicri:Area/PubMed/Checkpoint">003683</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003683</idno><idno type="wicri:Area/Ncbi/Merge">002675</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A novel VEGFR3 mutation causes Milroy disease.</title><author><name sortKey="Butler, Matthew G" sort="Butler, Matthew G" uniqKey="Butler M" first="Matthew G" last="Butler">Matthew G. Butler</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-0618, USA. butlerm@umich.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-0618</wicri:regionArea><wicri:noRegion>Michigan 48109-0618</wicri:noRegion></affiliation></author><author><name sortKey="Dagenais, Susan L" sort="Dagenais, Susan L" uniqKey="Dagenais S" first="Susan L" last="Dagenais">Susan L. Dagenais</name></author><author><name sortKey="Rockson, Stanley G" sort="Rockson, Stanley G" uniqKey="Rockson S" first="Stanley G" last="Rockson">Stanley G. Rockson</name></author><author><name sortKey="Glover, Thomas W" sort="Glover, Thomas W" uniqKey="Glover T" first="Thomas W" last="Glover">Thomas W. Glover</name></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="ISSN">1552-4825</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17458866</PMID><DateCreated><Year>2007</Year><Month>05</Month><Day>28</Day></DateCreated><DateCompleted><Year>2007</Year><Month>08</Month><Day>03</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>16</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1552-4825</ISSN><JournalIssue CitedMedium="Print"><Volume>143A</Volume><Issue>11</Issue><PubDate><Year>2007</Year><Month>Jun</Month><Day>01</Day></PubDate></JournalIssue><Title>American journal of medical genetics. Part A</Title><ISOAbbreviation>Am. J. Med. Genet. A</ISOAbbreviation></Journal><ArticleTitle>A novel VEGFR3 mutation causes Milroy disease.</ArticleTitle><Pagination><MedlinePgn>1212-7</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>Copyright (c) 2007 Wiley-Liss, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Butler</LastName><ForeName>Matthew G</ForeName><Initials>MG</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-0618, USA. butlerm@umich.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dagenais</LastName><ForeName>Susan L</ForeName><Initials>SL</Initials></Author><Author ValidYN="Y"><LastName>Rockson</LastName><ForeName>Stanley G</ForeName><Initials>SG</Initials></Author><Author ValidYN="Y"><LastName>Glover</LastName><ForeName>Thomas W</ForeName><Initials>TW</Initials></Author></AuthorList><Language>eng</Language><DataBankList CompleteYN="Y"><DataBank><DataBankName>RefSeq</DataBankName><AccessionNumberList><AccessionNumber>NP_032055</AccessionNumber><AccessionNumber>NP_891555</AccessionNumber><AccessionNumber>XP_414600</AccessionNumber><AccessionNumber>XP_538585</AccessionNumber><AccessionNumber>XP_579569</AccessionNumber></AccessionNumberList></DataBank></DataBankList><GrantList CompleteYN="Y"><Grant><GrantID>T32 GM007544</GrantID><Acronym>GM</Acronym><Agency>NIGMS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>5T32GM007544-29</GrantID><Acronym>GM</Acronym><Agency>NIGMS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>HL71206</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet A</MedlineTA><NlmUniqueID>101235741</NlmUniqueID><ISSNLinking>1552-4825</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber><NameOfSubstance UI="D040321">Vascular Endothelial Growth Factor Receptor-3</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000595" MajorTopicYN="N">Amino Acid Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017124" MajorTopicYN="N">Conserved Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005091" MajorTopicYN="N">Exons</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D040321" MajorTopicYN="N">Vascular Endothelial Growth Factor Receptor-3</DescriptorName><QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>4</Month><Day>27</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>8</Month><Day>4</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>4</Month><Day>27</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">17458866</ArticleId><ArticleId IdType="doi">10.1002/ajmg.a.31703</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><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="Rockson, Stanley G" sort="Rockson, Stanley G" uniqKey="Rockson S" first="Stanley G" last="Rockson">Stanley G. Rockson</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Butler, Matthew G" sort="Butler, Matthew G" uniqKey="Butler M" first="Matthew G" last="Butler">Matthew G. Butler</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002675 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd -nk 002675 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Ncbi
|étape= Merge
|type= RBID
|clé= pubmed:17458866
|texte= A novel VEGFR3 mutation causes Milroy disease.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:17458866" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |