@misc{10481/97123,
year = {2022},
month = {3},
url = {https://hdl.handle.net/10481/97123},
abstract = {In Brugada syndrome, even within the same family where all affected individuals share the
same mutation, phenotypic variation is prominent, with variable penetrance and expressivity,
presenting different degrees of involvement. It is difficult to establish a direct correlation
between genotype and phenotype to predict prognosis in complications and risk of sudden
death. The factors that modulate this inter- and intra-familial phenotypic variability remain to
be determined. With the intention of testing whether other genetic factors, in addition to the
causal mutation in SCN5A, may have a modulating effect on the Brugada phenotype and
the risk of sudden death, we have studied 8 families with a causal variant in SCN5A with at
least two affected individuals, one of whom has suffered cardiac arrest or sudden death.
Whole exome sequencing was performed looking for additional variants that modify the phenotype
and allow us to predict a better or worse prognosis for the evolution of the disease.
The results did not show any clear genetic modifier; nevertheless, highlight the possible
implication of the cholesterol and fibrosis pathways, as well as the circadian rhythm, as possible
modulators of Brugada syndrome phenotype.},
organization = {Convocatoria de Ayudas a la Investigación en Salud
de la Fundación Mutua Madrileña},
organization = {Plan
Estatal de I+D+i 2013-2020, Subdirección General
de Evaluación y Fomento de la Investigación
(ISCIII-SGEFI) from Instituto de Salud Carlos III
(ISCIII)},
organization = {Fondo Europeo de Desarrollo Regional
(FEDER) (grant numbers PI19/01283, CB16/11/00226)},
organization = {PFIS scholarship from the Instituto de Salud Carlos
III (ISCIII) and Fondo Europeo de Desarrollo
Regional (FEDER)(grant number FI20/00191)},
publisher = {PLOS ONE},
title = {Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome},
doi = {10.1371/journal.pone.0263469},
author = {Martínez-Campelo, Laura and Cruz, Raquel and Blanco-Verea, Alejandro and Moscoso, Isabel and Ramos-Luis, Eva and Lage, Ricardo and Álvarez-Barredo, María and Sabater-Molina, María and Peñafiel Verdú, Pablo and Jiménez Jáimez, Juan and Rodríguez Mañero, Moisés and Brion, María},
}