A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.
Identifieur interne : 002E23 ( Main/Exploration ); précédent : 002E22; suivant : 002E24A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.
Auteurs : Emilia Balboa-Beltran [Espagne] ; María J. Fernández-Seara [Espagne] ; Alejandro Pérez-Mu Uzuri [Espagne] ; Ram N Lago [Espagne] ; Carlos García-Magán [Espagne] ; María L. Couce [Espagne] ; Beatriz Sobrino [Espagne] ; Jorge Amigo [Espagne] ; Angel Carracedo [Arabie saoudite] ; Francisco Barros [Espagne]Source :
- Journal of medical genetics [ 1468-6244 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Vascular Endothelial Growth Factor C.
- chemical : Codon, Terminator.
- diagnosis : Lymphedema.
- genetics : Lymphedema.
- Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Infant, Pedigree.
Abstract
Milroy and Milroy-like disease are rare disorders characterised by congenital lymphoedema caused by dysfunctional lymphatic vessel formation. Loss of extracellular response mediated by vascular endothelial growth factor receptor 3 (VEGFR-3) is associated with Milroy disease, and VEGFR-3 gene is mutated in around 70% of the cases diagnosed. The only genetic alteration known to be associated with Milroy-like disease was recently identified in a family with a frameshift mutation in vascular endothelial growth factor C (VEGFC) gene, which encodes a VEGFR3 ligand.
DOI: 10.1136/jmedgenet-2013-102020
PubMed: 24744435
Affiliations:
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Compostela</wicri:regionArea><wicri:noRegion>Santiago de Compostela</wicri:noRegion></affiliation></author><author><name sortKey="Fernandez Seara, Maria J" sort="Fernandez Seara, Maria J" uniqKey="Fernandez Seara M" first="María J" last="Fernández-Seara">María J. 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Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain King Abdulaziz University, Center of Excellence in Genomic Medicine Research, Jeddah, Saudi Arabia.</nlm:affiliation><country xml:lang="fr">Arabie saoudite</country><wicri:regionArea>Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain Grupo de Medicina Xenómica-USC, CIBERER, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain King Abdulaziz University, Center of Excellence in Genomic Medicine Research, Jeddah</wicri:regionArea><wicri:noRegion>Jeddah</wicri:noRegion></affiliation></author><author><name sortKey="Barros, Francisco" sort="Barros, Francisco" uniqKey="Barros F" first="Francisco" last="Barros">Francisco Barros</name><affiliation wicri:level="1"><nlm:affiliation>Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain Grupo de Medicina Xenómica-USC, CIBERER, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain Grupo de Medicina Xenómica-USC, CIBERER, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela</wicri:regionArea><wicri:noRegion>Santiago de Compostela</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="eISSN">1468-6244</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Codon, Terminator</term><term>Female</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Infant</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Pedigree</term><term>Vascular Endothelial Growth Factor C (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Codon stop</term><term>Facteur de croissance endothéliale vasculaire de type C (génétique)</term><term>Femelle</term><term>Humains</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Nourrisson</term><term>Pedigree</term><term>Prédisposition génétique à une maladie</term><term>Études d'associations génétiques</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vascular Endothelial Growth Factor C</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Terminator</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></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Infant</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Codon stop</term><term>Femelle</term><term>Humains</term><term>Nourrisson</term><term>Pedigree</term><term>Prédisposition génétique à une maladie</term><term>Études d'associations génétiques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Milroy and Milroy-like disease are rare disorders characterised by congenital lymphoedema caused by dysfunctional lymphatic vessel formation. Loss of extracellular response mediated by vascular endothelial growth factor receptor 3 (VEGFR-3) is associated with Milroy disease, and VEGFR-3 gene is mutated in around 70% of the cases diagnosed. The only genetic alteration known to be associated with Milroy-like disease was recently identified in a family with a frameshift mutation in vascular endothelial growth factor C (VEGFC) gene, which encodes a VEGFR3 ligand.</div></front></TEI><affiliations><list><country><li>Arabie saoudite</li><li>Espagne</li></country></list><tree><country name="Espagne"><noRegion><name sortKey="Balboa Beltran, Emilia" sort="Balboa Beltran, Emilia" uniqKey="Balboa Beltran E" first="Emilia" last="Balboa-Beltran">Emilia Balboa-Beltran</name></noRegion><name sortKey="Amigo, Jorge" sort="Amigo, Jorge" uniqKey="Amigo J" first="Jorge" last="Amigo">Jorge Amigo</name><name sortKey="Barros, Francisco" sort="Barros, Francisco" uniqKey="Barros F" first="Francisco" last="Barros">Francisco Barros</name><name sortKey="Couce, Maria L" sort="Couce, Maria L" uniqKey="Couce M" first="María L" last="Couce">María L. Couce</name><name sortKey="Fernandez Seara, Maria J" sort="Fernandez Seara, Maria J" uniqKey="Fernandez Seara M" first="María J" last="Fernández-Seara">María J. Fernández-Seara</name><name sortKey="Garcia Magan, Carlos" sort="Garcia Magan, Carlos" uniqKey="Garcia Magan C" first="Carlos" last="García-Magán">Carlos García-Magán</name><name sortKey="Lago, Ram N" sort="Lago, Ram N" uniqKey="Lago R" first="Ram N" last="Lago">Ram N Lago</name><name sortKey="Perez Mu Uzuri, Alejandro" sort="Perez Mu Uzuri, Alejandro" uniqKey="Perez Mu Uzuri A" first="Alejandro" last="Pérez-Mu Uzuri">Alejandro Pérez-Mu Uzuri</name><name sortKey="Sobrino, Beatriz" sort="Sobrino, Beatriz" uniqKey="Sobrino B" first="Beatriz" last="Sobrino">Beatriz Sobrino</name></country><country name="Arabie saoudite"><noRegion><name sortKey="Carracedo, Angel" sort="Carracedo, Angel" uniqKey="Carracedo A" first="Angel" last="Carracedo">Angel Carracedo</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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