Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I.
Identifieur interne : 003498 ( PubMed/Curation ); précédent : 003497; suivant : 003499Identification 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 LiSource :
- Journal of genetics and genomics = Yi chuan xue bao [ 1673-8527 ] ; 2007.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Analyse de mutations d'ADN, Animaux, Données de séquences moléculaires, Enfant, Femelle, Génotype, Humains, Lymphoedème (anatomopathologie), Lymphoedème (génétique), Mutation faux-sens, Mâle, Pedigree, Population d'origine asiatique (génétique), Récepteur-3 au facteur croissance endothéliale vasculaire (), Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Sujet âgé, Séquence d'acides aminés, Séquence nucléotidique.
- MESH :
- anatomopathologie : Lymphoedème.
- génétique : Lymphoedème, Population d'origine asiatique, Récepteur-3 au facteur croissance endothéliale vasculaire.
- Adulte, Adulte d'âge moyen, Analyse de mutations d'ADN, Animaux, Données de séquences moléculaires, Enfant, Femelle, Génotype, Humains, Mutation faux-sens, Mâle, Pedigree, Récepteur-3 au facteur croissance endothéliale vasculaire, Sujet âgé, Séquence d'acides aminés, Séquence nucléotidique.
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
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Zhengya Yu<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>
Le document en format XML
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<term>Adulte d'âge moyen</term>
<term>Analyse de mutations d'ADN</term>
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<term>Données de séquences moléculaires</term>
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<term>Récepteur-3 au facteur croissance endothéliale vasculaire</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>
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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>
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