Uncovering an Unusual FBN1 Gene Mutation Responsible for Marfan Syndrome: A Case Study

TL;DR

This case study reports a rare FBN1 gene mutation causing Marfan syndrome in a 47-year-old man from Puerto Rico.

Contribution

The study presents the first reported case of a specific FBN1 mutation (c.8054A>G p.His2685Arg) in Puerto Rico.

Findings

The patient had a unique FBN1 gene mutation (c.8054A>G p.His2685Arg) on exon 65.

The mutation was classified as a variant of uncertain significance.

This is the first report of this mutation in Puerto Rico.

Abstract

Patients with Marfan syndrome have a constellation of clinical features and a heterogeneous phenotype. The purpose of this study is to report a 47-year-old male patient with an unusual variant in the FBN1 gene causing Marfan syndrome. The patient with musculoskeletal, cardiovascular, and ocular findings compatible with Marfan syndrome had an unusual pathogenic mutation on the FBN1 gene. The patient was examined by at least one of the authors (NJI). The patient’s clinical findings were compatible with Marfan syndrome. Our patient had a unique mutation in the FBN1 gene (c.8054A>G p.His2685Arg) located on exon 65. Next-generation sequencing was done using the Invitae panel. This variant was categorized as one of uncertain significance. This patient’s variant on the FBN1 gene leading to the syndrome has scant data associated with it and this is the first time it is reported from Puerto Rico.

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