Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation.

Background: Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, with variable incidence rates. A significant portion of cases stems from novel genetic variants, while others inherit it from affected parents.

Objective: This study focuses on identifying the genetic cause of MFS in a specific family, using whole-exome sequencing (WES).

Genetic homozygosity in a diverse population: An experience of long QT syndrome.

Background: Genomic variations have shown an ethnic-specific pattern within various cohorts. Genetic variants of KCNQ1, KCNH2, SCN5A and KCNE1 causing LQT syndrome have been described in many populations. In this article the spectrum of variants of these genes is presented in Iranian patients.