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

Simple item page
dc.contributor.authorJimenez, Yanireth
dc.contributor.authorPaulsen, Cesar
dc.contributor.authorTurner, Eduardo
dc.contributor.authorIturra, Sebastian
dc.contributor.authorCuevas, Oscar
dc.contributor.authorLay-Son, Guillermo
dc.contributor.authorRepetto, Gabriela
dc.contributor.authorRojas, Marcelo
dc.contributor.authorCalderon, Juan
dc.date.accessioned2022-11-28T14:12:32Z
dc.date.available2022-11-28T14:12:32Z
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.es
dc.description.versionVersión publicadaes
dc.identifier.citationJimenez Y, Paulsen C, Turner E, Iturra S, Cuevas O, Lay-Son G, Repetto GM, Rojas M, Calderon JF. Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome. Genes (Basel). 2022 Jun 8;13(6):1027. doi:10.3390/genes13061027es
dc.identifier.urihttps://doi.org/10.3390/genes13061027es
dc.identifier.urihttp://hdl.handle.net/11447/6763
dc.language.isoenes
dc.subjectMarfan syndromees
dc.subjectAortic aneurysmes
dc.subjectGenetic modifierses
dc.subjectExome sequencinges
dc.titleExome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndromees
dc.typeArticlees
dcterms.sourceGeneses

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Exome Sequencing Identifies Genetic Variants Associated.pdf
Size:
402 KB
Format:
Adobe Portable Document Format
Description:
Texto completo
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

Artículos Medicina y Ciencias de la Salud

Implementado por OpenGeek Services