A Novel Variant in the FBN1 Gene Causing Marfan Syndrome: A Case Report

TL;DR

This case report describes a new genetic variant in the FBN1 gene that causes Marfan syndrome in a 29-year-old woman.

Contribution

The paper presents a previously unreported pathogenic variant in the FBN1 gene associated with Marfan syndrome.

Findings

A novel pathogenic mutation in the FBN1 gene was identified in a patient with Marfan syndrome.

The patient exhibited typical musculoskeletal, cardiovascular, and ocular features of Marfan syndrome.

Further research is needed to determine if the variant contributes to camptodactyly in Marfan syndrome patients.

Abstract

Our purpose is to report a patient with a novel variant in the fibrillin-1 (FBN1) gene causing the Marfan syndrome (MFS).

The 29-year-old female patient with musculoskeletal, cardiovascular, and ocular findings compatible with the MFS had a novel pathogenic mutation on the FBN1 gene.

We report on a patient whose clinical findings are compatible with the MFS. This patient’s variant on the FBN1 gene leading to the syndrome has not been previously described. Additional investigations are needed to determine whether this variant contributes to the development of camptodactyly in patients with the syndrome.

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