Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.
Identifieur interne : 006404 ( Main/Exploration ); précédent : 006403; suivant : 006405Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.
Auteurs : F C Connell [Royaume-Uni] ; P. Ostergaard ; C. Carver ; G. Brice ; N. Williams ; S. Mansour ; Peter Mortimer (dermatologue) [Royaume-Uni] ; Steve JefferySource :
- Human genetics [ 1432-1203 ] ; 2009.
Descripteurs français
- KwdFr :
- Adolescent, Analyse de mutations d'ADN, Codon, Enfant, Enfant d'âge préscolaire, Facteur de croissance endothéliale vasculaire de type C (génétique), Femelle, Fréquence d'allèle, Gènes dominants, Humains, Lymphoedème (), Lymphoedème (diagnostic), Lymphoedème (génétique), Mutation, Mâle, Nourrisson, Nouveau-né, Phénotype, Réaction de polymérisation en chaîne, Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Âge de début.
- MESH :
- diagnostic : Lymphoedème.
- génétique : Facteur de croissance endothéliale vasculaire de type C, Lymphoedème, Récepteur-3 au facteur croissance endothéliale vasculaire.
- Adolescent, Analyse de mutations d'ADN, Codon, Enfant, Enfant d'âge préscolaire, Femelle, Fréquence d'allèle, Gènes dominants, Humains, Lymphoedème, Mutation, Mâle, Nourrisson, Nouveau-né, Phénotype, Réaction de polymérisation en chaîne, Âge de début.
English descriptors
- KwdEn :
- Adolescent, Age of Onset, Child, Child, Preschool, Codon, DNA Mutational Analysis, Female, Gene Frequency, Genes, Dominant, Humans, Infant, Infant, Newborn, Lymphedema (congenital), Lymphedema (diagnosis), Lymphedema (genetics), Male, Mutation, Phenotype, Polymerase Chain Reaction, Vascular Endothelial Growth Factor C (genetics), Vascular Endothelial Growth Factor Receptor-3 (genetics).
- MESH :
- chemical , genetics : Vascular Endothelial Growth Factor C, Vascular Endothelial Growth Factor Receptor-3.
- chemical : Codon.
- congenital : Lymphedema.
- diagnosis : Lymphedema.
- genetics : Lymphedema.
- Adolescent, Age of Onset, Child, Child, Preschool, DNA Mutational Analysis, Female, Gene Frequency, Genes, Dominant, Humans, Infant, Infant, Newborn, Male, Mutation, Phenotype, Polymerase Chain Reaction.
Abstract
Milroy disease (hereditary lymphoedema type I, MIM 153100) is a congenital onset primary lymphoedema with autosomal dominant inheritance. Mutations in the gene, vascular endothelial growth factor receptor 3, VEGFR3 (FLT4), are known to cause Milroy disease, but there is uncertainty about the prevalence of VEGFR3 mutations in patients with primary lymphoedema and more specifically in those with a phenotype that resembles Milroy disease. This study aims to address this issue and thereby delineate the Milroy disease phenotype. Fifty-two patients with primary lymphoedema were analysed for mutations in the coding regions of VEGFR3. Patients were divided into four groups: Typical Milroy disease with family history (group I), typical Milroy disease with no family history (group II), atypical Milroy disease (group III), and complex primary lymphoedema (group IV). Results demonstrated that with rigorous phenotyping the likelihood of detecting VEGFR3 mutations is optimised. Mutation prevalence is 75% in typical Milroy patients with a family history (group I) and 68% if positive family history is not a diagnostic criterion. A positive family history is not essential in Milroy disease. The likelihood of detecting VEGFR3 mutations in patients who have a phenotype which is not typical of Milroy disease is very small (<5%). For the 22 mutation positive patients, 14 novel VEGFR3 mutations were identified, two of which were in exon 22 and one in exon 17, confirming that these exons should be included in VEGFR3 analysis. No mutations were found outside the kinase domains, showing that analysis of this part of the gene is not useful for Milroy disease patients. VEGFC, which encodes the ligand for VEGFR3, was sequenced in all patients with typical Milroy disease (groups I and II) and no mutations were identified.
DOI: 10.1007/s00439-008-0586-5
PubMed: 19002718
Affiliations:
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Mansour</name></author><author><name sortKey="Mortimer, P S" sort="Mortimer, P S" uniqKey="Mortimer P" first="P S" last="Mortimer">Peter Mortimer (dermatologue)</name><affiliation><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name></author></analytic><series><title level="j">Human genetics</title><idno type="eISSN">1432-1203</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>Codon</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Frequency</term><term>Genes, Dominant</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Lymphedema (congenital)</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Mutation</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Vascular Endothelial Growth Factor C (genetics)</term><term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Analyse de mutations d'ADN</term><term>Codon</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Facteur de croissance endothéliale vasculaire de type C (génétique)</term><term>Femelle</term><term>Fréquence d'allèle</term><term>Gènes dominants</term><term>Humains</term><term>Lymphoedème ()</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Phénotype</term><term>Réaction de polymérisation en chaîne</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term><term>Âge de début</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vascular Endothelial Growth Factor C</term><term>Vascular Endothelial Growth Factor Receptor-3</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteur de croissance endothéliale vasculaire de type C</term><term>Lymphoedème</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Frequency</term><term>Genes, Dominant</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Mutation</term><term>Phenotype</term><term>Polymerase Chain Reaction</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Analyse de mutations d'ADN</term><term>Codon</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Fréquence d'allèle</term><term>Gènes dominants</term><term>Humains</term><term>Lymphoedème</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Phénotype</term><term>Réaction de polymérisation en chaîne</term><term>Âge de début</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Milroy disease (hereditary lymphoedema type I, MIM 153100) is a congenital onset primary lymphoedema with autosomal dominant inheritance. Mutations in the gene, vascular endothelial growth factor receptor 3, VEGFR3 (FLT4), are known to cause Milroy disease, but there is uncertainty about the prevalence of VEGFR3 mutations in patients with primary lymphoedema and more specifically in those with a phenotype that resembles Milroy disease. This study aims to address this issue and thereby delineate the Milroy disease phenotype. Fifty-two patients with primary lymphoedema were analysed for mutations in the coding regions of VEGFR3. Patients were divided into four groups: Typical Milroy disease with family history (group I), typical Milroy disease with no family history (group II), atypical Milroy disease (group III), and complex primary lymphoedema (group IV). Results demonstrated that with rigorous phenotyping the likelihood of detecting VEGFR3 mutations is optimised. Mutation prevalence is 75% in typical Milroy patients with a family history (group I) and 68% if positive family history is not a diagnostic criterion. A positive family history is not essential in Milroy disease. The likelihood of detecting VEGFR3 mutations in patients who have a phenotype which is not typical of Milroy disease is very small (<5%). For the 22 mutation positive patients, 14 novel VEGFR3 mutations were identified, two of which were in exon 22 and one in exon 17, confirming that these exons should be included in VEGFR3 analysis. No mutations were found outside the kinase domains, showing that analysis of this part of the gene is not useful for Milroy disease patients. VEGFC, which encodes the ligand for VEGFR3, was sequenced in all patients with typical Milroy disease (groups I and II) and no mutations were identified.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>Université de Londres</li></orgName></list><tree><noCountry><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name><name sortKey="Carver, C" sort="Carver, C" uniqKey="Carver C" first="C" last="Carver">C. Carver</name><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. Mansour</name><name sortKey="Ostergaard, P" sort="Ostergaard, P" uniqKey="Ostergaard P" first="P" last="Ostergaard">P. Ostergaard</name><name sortKey="Williams, N" sort="Williams, N" uniqKey="Williams N" first="N" last="Williams">N. Williams</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Connell, F C" sort="Connell, F C" uniqKey="Connell F" first="F C" last="Connell">F C Connell</name></region><name sortKey="Mortimer, P S" sort="Mortimer, P S" uniqKey="Mortimer P" first="P S" last="Mortimer">Peter Mortimer (dermatologue)</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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