LymphedemaV1, Ncbi, Merge, bibRecord, 003C87

[Identification of VEGFR3 gene mutation in a Chinese family with autosomal dominant primary congenital lymphoedema].

Identifieur interne : 003C87 ( Ncbi/Merge ); précédent : 003C86; suivant : 003C88

[Identification of VEGFR3 gene mutation in a Chinese family with autosomal dominant primary congenital lymphoedema].

Auteurs : Ji-Qun Sheng [République populaire de Chine] ; Feng Zeng ; Chang Li ; Jing-Yu Liu ; Qing Wang ; Mu-Gen Liu

Source :

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [ 1003-9406 ] ; 2010.

RBID : pubmed:20677139

Descripteurs français

English descriptors

KwdEn :
- Amino Acid Substitution, Asian Continental Ancestry Group (genetics), Cataract (genetics), Genetic Loci, Humans, Lod Score, Lymphedema (genetics), Microsatellite Repeats (genetics), Mutation, Point Mutation, Vascular Endothelial Growth Factor Receptor-3 (genetics).
MESH :
- chemical , genetics : Vascular Endothelial Growth Factor Receptor-3.
- genetics : Asian Continental Ancestry Group, Cataract, Lymphedema, Microsatellite Repeats.
- Amino Acid Substitution, Genetic Loci, Humans, Lod Score, Mutation, Point Mutation.

Abstract

To identify the disease-causing gene in a four-generation Chinese family with 9 members affected with primary congenital lymphoedema (PCL, also known as Milroy disease).

DOI: 10.3760/cma.j.issn.1003-9406.2010.04.003
PubMed: 20677139

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pubmed:20677139

Le document en format XML

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<author><name sortKey="Sheng, Ji Qun" sort="Sheng, Ji Qun" uniqKey="Sheng J" first="Ji-Qun" last="Sheng">Ji-Qun Sheng</name>
<affiliation wicri:level="1"><nlm:affiliation>Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074 PR China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei</wicri:regionArea>
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<author><name sortKey="Zeng, Feng" sort="Zeng, Feng" uniqKey="Zeng F" first="Feng" last="Zeng">Feng Zeng</name>
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<author><name sortKey="Li, Chang" sort="Li, Chang" uniqKey="Li C" first="Chang" last="Li">Chang Li</name>
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<author><name sortKey="Liu, Jing Yu" sort="Liu, Jing Yu" uniqKey="Liu J" first="Jing-Yu" last="Liu">Jing-Yu Liu</name>
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<author><name sortKey="Wang, Qing" sort="Wang, Qing" uniqKey="Wang Q" first="Qing" last="Wang">Qing Wang</name>
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<author><name sortKey="Liu, Mu Gen" sort="Liu, Mu Gen" uniqKey="Liu M" first="Mu-Gen" last="Liu">Mu-Gen Liu</name>
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<affiliation wicri:level="1"><nlm:affiliation>Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074 PR China.</nlm:affiliation>
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<author><name sortKey="Zeng, Feng" sort="Zeng, Feng" uniqKey="Zeng F" first="Feng" last="Zeng">Feng Zeng</name>
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<author><name sortKey="Li, Chang" sort="Li, Chang" uniqKey="Li C" first="Chang" last="Li">Chang Li</name>
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<author><name sortKey="Liu, Jing Yu" sort="Liu, Jing Yu" uniqKey="Liu J" first="Jing-Yu" last="Liu">Jing-Yu Liu</name>
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<author><name sortKey="Wang, Qing" sort="Wang, Qing" uniqKey="Wang Q" first="Qing" last="Wang">Qing Wang</name>
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<author><name sortKey="Liu, Mu Gen" sort="Liu, Mu Gen" uniqKey="Liu M" first="Mu-Gen" last="Liu">Mu-Gen Liu</name>
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<series><title level="j">Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Substitution</term>
<term>Asian Continental Ancestry Group (genetics)</term>
<term>Cataract (genetics)</term>
<term>Genetic Loci</term>
<term>Humans</term>
<term>Lod Score</term>
<term>Lymphedema (genetics)</term>
<term>Microsatellite Repeats (genetics)</term>
<term>Mutation</term>
<term>Point Mutation</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Cataracte (génétique)</term>
<term>Humains</term>
<term>Locus génétiques</term>
<term>Lod score</term>
<term>Lymphoedème (génétique)</term>
<term>Mutation</term>
<term>Mutation ponctuelle</term>
<term>Population d'origine asiatique (génétique)</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term>
<term>Répétitions microsatellites (génétique)</term>
<term>Substitution d'acide aminé</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="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term>
<term>Cataract</term>
<term>Lymphedema</term>
<term>Microsatellite Repeats</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Cataracte</term>
<term>Lymphoedème</term>
<term>Population d'origine asiatique</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
<term>Répétitions microsatellites</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Amino Acid Substitution</term>
<term>Genetic Loci</term>
<term>Humans</term>
<term>Lod Score</term>
<term>Mutation</term>
<term>Point Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Humains</term>
<term>Locus génétiques</term>
<term>Lod score</term>
<term>Mutation</term>
<term>Mutation ponctuelle</term>
<term>Substitution d'acide aminé</term>
</keywords>
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<front><div type="abstract" xml:lang="en">To identify the disease-causing gene in a four-generation Chinese family with 9 members affected with primary congenital lymphoedema (PCL, also known as Milroy disease).</div>
</front>
</TEI>
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<DateCreated><Year>2010</Year>
<Month>08</Month>
<Day>02</Day>
</DateCreated>
<DateCompleted><Year>2010</Year>
<Month>12</Month>
<Day>10</Day>
</DateCompleted>
<DateRevised><Year>2010</Year>
<Month>08</Month>
<Day>02</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">1003-9406</ISSN>
<JournalIssue CitedMedium="Print"><Volume>27</Volume>
<Issue>4</Issue>
<PubDate><Year>2010</Year>
<Month>Aug</Month>
</PubDate>
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<Title>Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics</Title>
<ISOAbbreviation>Zhonghua Yi Xue Yi Chuan Xue Za Zhi</ISOAbbreviation>
</Journal>
<ArticleTitle>[Identification of VEGFR3 gene mutation in a Chinese family with autosomal dominant primary congenital lymphoedema].</ArticleTitle>
<Pagination><MedlinePgn>371-5</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.3760/cma.j.issn.1003-9406.2010.04.003</ELocationID>
<Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To identify the disease-causing gene in a four-generation Chinese family with 9 members affected with primary congenital lymphoedema (PCL, also known as Milroy disease).</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Linkage analysis was performed with a few microsatellite markers flanking the candidate genetic loci for PCL, including 3 known genes associated with autosomal dominant PCL. For mutation analysis, VEGFR3 gene was sequenced with DNA from the proband. Direct DNA sequencing of exon 25 of the VEGFR3 gene was performed in all family members.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">The disease gene in the family was mapped to chromosome 5q35.3 with a maximum Lod score of 2.07. Direct DNA sequencing of VEGFR3 gene revealed a heterozygous C to T transition at nucleotide 3341, resulting in p.Pro1114Leu mutation. The p.Pro1114Leu mutation co-segregated with all affected individuals in the family.</AbstractText>
<AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">This study identified a C3341T (p.Pro1114Leu) mutation in the VEGFR3 gene in a Chinese family with PCL, provided evidence that VEGFR3 mutation can cause PCL in Chinese.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sheng</LastName>
<ForeName>Ji-qun</ForeName>
<Initials>JQ</Initials>
<AffiliationInfo><Affiliation>Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074 PR China.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Li</LastName>
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<Author ValidYN="Y"><LastName>Liu</LastName>
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<Author ValidYN="Y"><LastName>Wang</LastName>
<ForeName>Qing</ForeName>
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<Author ValidYN="Y"><LastName>Liu</LastName>
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<MedlineJournalInfo><Country>China</Country>
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<NlmUniqueID>9425197</NlmUniqueID>
<ISSNLinking>1003-9406</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber>
<NameOfSubstance UI="D040321">Vascular Endothelial Growth Factor Receptor-3</NameOfSubstance>
</Chemical>
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<MeshHeadingList><MeshHeading><DescriptorName UI="D019943" MajorTopicYN="N">Amino Acid Substitution</DescriptorName>
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<MeshHeading><DescriptorName UI="D056426" MajorTopicYN="N">Genetic Loci</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008126" MajorTopicYN="Y">Lod Score</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D018895" MajorTopicYN="N">Microsatellite Repeats</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
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<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
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<MeshHeading><DescriptorName UI="D017354" MajorTopicYN="N">Point Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D040321" MajorTopicYN="N">Vascular Endothelial Growth Factor Receptor-3</DescriptorName>
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<name sortKey="Liu, Jing Yu" sort="Liu, Jing Yu" uniqKey="Liu J" first="Jing-Yu" last="Liu">Jing-Yu Liu</name>
<name sortKey="Liu, Mu Gen" sort="Liu, Mu Gen" uniqKey="Liu M" first="Mu-Gen" last="Liu">Mu-Gen Liu</name>
<name sortKey="Wang, Qing" sort="Wang, Qing" uniqKey="Wang Q" first="Qing" last="Wang">Qing Wang</name>
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[Identification of VEGFR3 gene mutation in a Chinese family with autosomal dominant primary congenital lymphoedema].

[Identification of VEGFR3 gene mutation in a Chinese family with autosomal dominant primary congenital lymphoedema].

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki