Genetic causes of vascular malformations
Identifieur interne : 007384 ( Main/Exploration ); précédent : 007383; suivant : 007385Genetic causes of vascular malformations
Auteurs : Pascal Brouillard [Belgique] ; Miikka Vikkula [Belgique]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2007-10-15.
Descripteurs français
- KwdFr :
- Humains, Lymphoedème (génétique), Malformations (anatomopathologie), Malformations (génétique), Malformations (étiologie), Malformations artérioveineuses (génétique), Malformations artérioveineuses intracrâniennes (génétique), Malformations lymphatiques (génétique), Modèles biologiques, Télangiectasie hémorragique héréditaire (génétique), Vaisseaux capillaires (malformations), Vaisseaux sanguins (malformations).
- MESH :
- anatomopathologie : Malformations.
- génétique : Lymphoedème, Malformations, Malformations artérioveineuses, Malformations artérioveineuses intracrâniennes, Malformations lymphatiques, Télangiectasie hémorragique héréditaire.
- malformations : Vaisseaux capillaires, Vaisseaux sanguins.
- étiologie : Malformations.
- Humains, Modèles biologiques.
English descriptors
- KwdEn :
- Arteriovenous Malformations (genetics), Blood Vessels (abnormalities), Capillaries (abnormalities), Congenital Abnormalities (etiology), Congenital Abnormalities (genetics), Congenital Abnormalities (pathology), Humans, Intracranial Arteriovenous Malformations (genetics), Lymphatic Abnormalities (genetics), Lymphedema (genetics), Models, Biological, Telangiectasia, Hereditary Hemorrhagic (genetics).
- MESH :
- abnormalities : Blood Vessels, Capillaries.
- etiology : Congenital Abnormalities.
- genetics : Arteriovenous Malformations, Congenital Abnormalities, Intracranial Arteriovenous Malformations, Lymphatic Abnormalities, Lymphedema, Telangiectasia, Hereditary Hemorrhagic.
- pathology : Congenital Abnormalities.
- Humans, Models, Biological.
Abstract
Vascular malformations are localized defects of vascular development. They usually affect a limited number of vessels in a restricted area of the body. Although most malformations are sporadic, inheritance is observed, enabling genetic analysis. Usually, sporadic forms present with a single lesion whereas multiple lesions are observed in familial cases. The last decade has seen unraveling of several causative genes and beginning of elucidation of the pathophysiological pathways involved in the inherited forms. In parallel, definition of the clinical phenotypes has improved and disorders such as Parkes-Weber syndrome (PKWS), first thought to be sporadic, is now known to be part of a more common inheritable phenotype. In addition, the concept of double-hit mechanism that we proposed earlier to explain the incomplete penetrance, variable expressivity and multifocality of lesions in inherited venous anomalies is now becoming confirmed, as some somatic mutations have been identified in venous, glomuvenous and cerebral cavernous malformations. It is thus tempting to suggest that familial forms of vascular malformations follow paradominant inheritance and that sporadic forms, the etiopathogenic causes of which are still unelucidated, are caused by somatic mutations in the same genes.
Url:
DOI: 10.1093/hmg/ddm211
Affiliations:
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(pathology)</term><term>Humans</term><term>Intracranial Arteriovenous Malformations (genetics)</term><term>Lymphatic Abnormalities (genetics)</term><term>Lymphedema (genetics)</term><term>Models, Biological</term><term>Telangiectasia, Hereditary Hemorrhagic (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Humains</term><term>Lymphoedème (génétique)</term><term>Malformations (anatomopathologie)</term><term>Malformations (génétique)</term><term>Malformations (étiologie)</term><term>Malformations artérioveineuses (génétique)</term><term>Malformations artérioveineuses intracrâniennes (génétique)</term><term>Malformations lymphatiques (génétique)</term><term>Modèles biologiques</term><term>Télangiectasie hémorragique héréditaire (génétique)</term><term>Vaisseaux capillaires (malformations)</term><term>Vaisseaux sanguins (malformations)</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Blood 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sanguins</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Congenital Abnormalities</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Malformations</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Models, Biological</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Humains</term><term>Modèles biologiques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">Vascular malformations are localized defects of vascular development. They usually affect a limited number of vessels in a restricted area of the body. Although most malformations are sporadic, inheritance is observed, enabling genetic analysis. Usually, sporadic forms present with a single lesion whereas multiple lesions are observed in familial cases. The last decade has seen unraveling of several causative genes and beginning of elucidation of the pathophysiological pathways involved in the inherited forms. In parallel, definition of the clinical phenotypes has improved and disorders such as Parkes-Weber syndrome (PKWS), first thought to be sporadic, is now known to be part of a more common inheritable phenotype. In addition, the concept of double-hit mechanism that we proposed earlier to explain the incomplete penetrance, variable expressivity and multifocality of lesions in inherited venous anomalies is now becoming confirmed, as some somatic mutations have been identified in venous, glomuvenous and cerebral cavernous malformations. It is thus tempting to suggest that familial forms of vascular malformations follow paradominant inheritance and that sporadic forms, the etiopathogenic causes of which are still unelucidated, are caused by somatic mutations in the same genes.</div></front></TEI><affiliations><list><country><li>Belgique</li></country><region><li>Région de Bruxelles-Capitale</li></region><settlement><li>Bruxelles</li></settlement></list><tree><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name></region><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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