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

ABSTRACT:

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).

Methods

A 15-year-old male with confirmed MFS was examined, showing symptoms of palpitations and severe mitral valve regurgitation. WES was performed, followed by confirmation with Sanger sequencing. Variants were assessed for pathogenicity using bioinformatics tools and the American College of Medical Genetics and Genomics (ACMG) guidelines.

Results

One potentially novel pathogenic variant was found in exon 14 o

SUBMITTER: Sabahizadeh A 

PROVIDER: S-EPMC11889773 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature