Next Article in Journal
Metallothioneins in Dental Implant Treatment Failure and Periodontitis in Patients with Down’s Syndrome: Validation of Results
Next Article in Special Issue
HSPA8 Single-Nucleotide Polymorphism Is Associated with Serum HSC70 Concentration and Carotid Artery Atherosclerosis in Nonalcoholic Fatty Liver Disease
Previous Article in Journal
Nuclear and Mitochondrial Phylogenomics of the Sifakas Reveal Cryptic Variation in the Diademed Sifaka
Previous Article in Special Issue
Single-Cell Analysis of Aneurysmal Aortic Tissue in Patients with Marfan Syndrome Reveals Dysfunctional TGF-β Signaling
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Genes
Volume 13
Issue 6
10.3390/genes13061027
genes-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

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

by
Yanireth Jimenez
1,
Cesar Paulsen
2,
Eduardo Turner
2,
Sebastian Iturra
2,
Oscar Cuevas
2,3,
Guillermo Lay-son
4,
Gabriela M. Repetto
5,
Marcelo Rojas
1 and
Juan F. Calderon
6,7,*
1
Doctorado en Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 8320000, Chile
2
Servicio de Cirugía Cardiovascular, Instituto Nacional del Tórax, Santiago 7500808, Chile
3
Departamento de Cirugía Cardiovascular, Clínica Alemana, Universidad del Desarrollo, Santiago 8320000, Chile
4
Unidad de Genética, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago 8331150, Chile
5
Programa de Enfermedades Poco Frecuentes, Centro de Genética y Genómica, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 8320000, Chile
6
Centro de Genética y Genómica, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 8320000, Chile
7
Research Center for the Development of Novel Therapeutic Alternatives for Alcohol Use Disorders, Santiago 8320000, Chile
*
Author to whom correspondence should be addressed.
Genes 2022, 13(6), 1027; https://doi.org/10.3390/genes13061027
Submission received: 13 April 2022 / Revised: 6 May 2022 / Accepted: 2 June 2022 / Published: 8 June 2022
(This article belongs to the Special Issue Molecular Mechanisms of Vascular Disease)
Browse Figure
Review Reports Versions Notes

Abstract

Marfan 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.
Keywords: Marfan syndrome; aortic aneurysm; genetic modifiers; exome sequencing Marfan syndrome; aortic aneurysm; genetic modifiers; exome sequencing

Share and Cite

MDPI and ACS Style

Jimenez, Y.; Paulsen, C.; Turner, E.; Iturra, S.; Cuevas, O.; Lay-son, G.; Repetto, G.M.; Rojas, M.; Calderon, J.F. Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome. Genes 2022, 13, 1027. https://doi.org/10.3390/genes13061027

AMA Style

Jimenez 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. 2022; 13(6):1027. https://doi.org/10.3390/genes13061027

Chicago/Turabian Style

Jimenez, Yanireth, Cesar Paulsen, Eduardo Turner, Sebastian Iturra, Oscar Cuevas, Guillermo Lay-son, Gabriela M. Repetto, Marcelo Rojas, and Juan F. Calderon. 2022. "Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome" Genes 13, no. 6: 1027. https://doi.org/10.3390/genes13061027

APA Style

Jimenez, Y., Paulsen, C., Turner, E., Iturra, S., Cuevas, O., Lay-son, G., Repetto, G. M., Rojas, M., & Calderon, J. F. (2022). Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome. Genes, 13(6), 1027. https://doi.org/10.3390/genes13061027

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop