Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.

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dc.catalogadoraba
dc.contributor.authorJimenez, Yanireth
dc.contributor.authorPaulsen, César
dc.contributor.authorTurner, Eduardo
dc.contributor.authorIturra, Sebastián
dc.contributor.authorCuevas, Óscar
dc.contributor.authorLay-son, Guillermo
dc.contributor.authorRepetto, Gabriela M.
dc.contributor.authorRojas, Marcelo
dc.contributor.authorCalderon, Juan F.
dc.date.accessioned2024-03-04T15:19:40Z
dc.date.available2024-03-04T15:19:40Z
dc.date.issued2022
dc.description.abstractMarfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and dissection. Although dissection of the ascending aorta is the main cause of mortality in MFS, the clinical course differs considerably in age of onset and severity, even among individuals who share the same causative variant, suggesting the existence of additional genetic variants that modify the severity of the cardiovascular phenotype in MFS. We recruited MFS patients and classified them into severe (n = 8) or mild aortic phenotype (n = 14) according to age of presentation of the first aorta-related incident. We used Exome Sequencing to identify the genetic variants associated with the severity of aortic manifestations and we performed linkage analysis where suitable. We found five genes associated with severe aortic phenotype and three genes that could be protective for this phenotype in MFS. These genes regulate components of the extracellular matrix, TGFβ pathway and other signaling pathways that are involved in the maintenance of the ECM or angiogenesis. Further studies will be required to understand the functional effect of these variants and explore novel, personalized risk management and, potentially, therapies for these patients.
dc.fechaingreso.objetodigital2024-03-25
dc.format.extent15 páginas
dc.fuente.origenORCID
dc.identifier.doi10.3390/genes13061027
dc.identifier.eissn2073-4425
dc.identifier.urihttps://doi.org/10.3390/genes13061027
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/82454
dc.identifier.wosidWOS:000815892800001
dc.information.autorucEscuela de Medicina; Lay-son Rodriguez, Guillermo Roberto; 0000-0001-9933-1253; 1081531
dc.issue.numero6
dc.language.isoen
dc.nota.accesoContenido completo
dc.pagina.final15
dc.pagina.inicio1
dc.revistaGenes
dc.rightsacceso abierto
dc.rights.licenseCC BY 4.0 DEED Attribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectMarfan syndrome
dc.subjectAortic aneurysm
dc.subjectGenetic modifiers
dc.subjectExome sequencing
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titleExome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.
dc.typeartículo
dc.volumen13
sipa.codpersvinculados1081531
sipa.trazabilidadORCID;2024-01-15
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