LymphedemaV1, PubMed, Checkpoint, bibRecord, 003322

Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I.

Identifieur interne : 003322 ( PubMed/Checkpoint ); précédent : 003321; suivant : 003323

Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I.

Auteurs : Zhengya Yu ; Jingjing Wang ; Shuling Peng ; Bing Dong ; Yang Li

Source :

Journal of genetics and genomics = Yi chuan xue bao [ 1673-8527 ] ; 2007.

RBID : pubmed:17945164

Descripteurs français

English descriptors

KwdEn :
- Adult, Aged, Amino Acid Sequence, Animals, Asian Continental Ancestry Group (genetics), Base Sequence, Child, DNA Mutational Analysis, Female, Genotype, Humans, Lymphedema (genetics), Lymphedema (pathology), Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, 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 : Asian Continental Ancestry Group, Lymphedema, Vascular Endothelial Growth Factor Receptor-3.
- pathology : Lymphedema.
- Adult, Aged, Amino Acid Sequence, Animals, Base Sequence, Child, DNA Mutational Analysis, Female, Genotype, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Pedigree.

Abstract

A novel mutation of vascular endothelial growth factor receptor gene (VEGFR-3), was identified in a four-generation Chinese family with hereditary lymphedema type I (HL-I). Genetic linkage analysis was performed on the known genetic locus for HL-I with a panel of polymorphic markers, and then mutations were screened out by direct sequencing. By genotyping, the family showed the linkage to HL-I locus on 5q35.3. Mutation screening analysis of the exons encoding the intracellular kinase domains of VEGFR-3, revealed a novel missense mutation D1055V. This mutation cosegregated with the disease phenotype in the family and was not found in 100 normal controls. This finding has expanded the spectrum of the VEGFR-3 gene mutations causing HL-I, and will be useful for further genetic consultation and genetic diagnosis.

DOI: 10.1016/S1673-8527(07)60097-6
PubMed: 17945164

Affiliations:

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pubmed:17945164

Le document en format XML

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<author><name sortKey="Yu, Zhengya" sort="Yu, Zhengya" uniqKey="Yu Z" first="Zhengya" last="Yu">Zhengya Yu</name>
<affiliation><nlm:affiliation>Department of General and Vascular Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730 China.</nlm:affiliation>
<wicri:noCountry code="subField">Beijing 100730 China</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Wang, Jingjing" sort="Wang, Jingjing" uniqKey="Wang J" first="Jingjing" last="Wang">Jingjing Wang</name>
</author>
<author><name sortKey="Peng, Shuling" sort="Peng, Shuling" uniqKey="Peng S" first="Shuling" last="Peng">Shuling Peng</name>
</author>
<author><name sortKey="Dong, Bing" sort="Dong, Bing" uniqKey="Dong B" first="Bing" last="Dong">Bing Dong</name>
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<author><name sortKey="Li, Yang" sort="Li, Yang" uniqKey="Li Y" first="Yang" last="Li">Yang Li</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I.</title>
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<author><name sortKey="Wang, Jingjing" sort="Wang, Jingjing" uniqKey="Wang J" first="Jingjing" last="Wang">Jingjing Wang</name>
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<author><name sortKey="Peng, Shuling" sort="Peng, Shuling" uniqKey="Peng S" first="Shuling" last="Peng">Shuling Peng</name>
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<author><name sortKey="Dong, Bing" sort="Dong, Bing" uniqKey="Dong B" first="Bing" last="Dong">Bing Dong</name>
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<author><name sortKey="Li, Yang" sort="Li, Yang" uniqKey="Li Y" first="Yang" last="Li">Yang Li</name>
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<term>Asian Continental Ancestry Group (genetics)</term>
<term>Base Sequence</term>
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<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (pathology)</term>
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<term>Middle Aged</term>
<term>Molecular Sequence Data</term>
<term>Mutation, Missense</term>
<term>Pedigree</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (chemistry)</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Analyse de mutations d'ADN</term>
<term>Animaux</term>
<term>Données de séquences moléculaires</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Génotype</term>
<term>Humains</term>
<term>Lymphoedème (anatomopathologie)</term>
<term>Lymphoedème (génétique)</term>
<term>Mutation faux-sens</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Population d'origine asiatique (génétique)</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire ()</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term>
<term>Sujet âgé</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="anatomopathologie" xml:lang="fr"><term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term>
<term>Lymphedema</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term>
<term>Population d'origine asiatique</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphedema</term>
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<term>Aged</term>
<term>Amino Acid Sequence</term>
<term>Animals</term>
<term>Base Sequence</term>
<term>Child</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Sequence Data</term>
<term>Mutation, Missense</term>
<term>Pedigree</term>
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<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Analyse de mutations d'ADN</term>
<term>Animaux</term>
<term>Données de séquences moléculaires</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Génotype</term>
<term>Humains</term>
<term>Mutation faux-sens</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
<term>Sujet âgé</term>
<term>Séquence d'acides aminés</term>
<term>Séquence nucléotidique</term>
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<front><div type="abstract" xml:lang="en">A novel mutation of vascular endothelial growth factor receptor gene (VEGFR-3), was identified in a four-generation Chinese family with hereditary lymphedema type I (HL-I). Genetic linkage analysis was performed on the known genetic locus for HL-I with a panel of polymorphic markers, and then mutations were screened out by direct sequencing. By genotyping, the family showed the linkage to HL-I locus on 5q35.3. Mutation screening analysis of the exons encoding the intracellular kinase domains of VEGFR-3, revealed a novel missense mutation D1055V. This mutation cosegregated with the disease phenotype in the family and was not found in 100 normal controls. This finding has expanded the spectrum of the VEGFR-3 gene mutations causing HL-I, and will be useful for further genetic consultation and genetic diagnosis.</div>
</front>
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<Month>10</Month>
<Day>19</Day>
</DateCreated>
<DateCompleted><Year>2009</Year>
<Month>04</Month>
<Day>24</Day>
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<Month>11</Month>
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<Title>Journal of genetics and genomics = Yi chuan xue bao</Title>
<ISOAbbreviation>J Genet Genomics</ISOAbbreviation>
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<ArticleTitle>Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I.</ArticleTitle>
<Pagination><MedlinePgn>861-7</MedlinePgn>
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<Abstract><AbstractText>A novel mutation of vascular endothelial growth factor receptor gene (VEGFR-3), was identified in a four-generation Chinese family with hereditary lymphedema type I (HL-I). Genetic linkage analysis was performed on the known genetic locus for HL-I with a panel of polymorphic markers, and then mutations were screened out by direct sequencing. By genotyping, the family showed the linkage to HL-I locus on 5q35.3. Mutation screening analysis of the exons encoding the intracellular kinase domains of VEGFR-3, revealed a novel missense mutation D1055V. This mutation cosegregated with the disease phenotype in the family and was not found in 100 normal controls. This finding has expanded the spectrum of the VEGFR-3 gene mutations causing HL-I, and will be useful for further genetic consultation and genetic diagnosis.</AbstractText>
</Abstract>
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<AffiliationInfo><Affiliation>Department of General and Vascular Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730 China.</Affiliation>
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<name sortKey="Peng, Shuling" sort="Peng, Shuling" uniqKey="Peng S" first="Shuling" last="Peng">Shuling Peng</name>
<name sortKey="Wang, Jingjing" sort="Wang, Jingjing" uniqKey="Wang J" first="Jingjing" last="Wang">Jingjing Wang</name>
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Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I.

Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I.

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