Uncovering an Unusual FBN1 Gene Mutation Responsible for Marfan Syndrome: A Case Study.
| Autor: | Jiménez-Berríos GA; School of Medicine, Universidad Central del Caribe, Bayamón, PRI., Vázquez-Folch SJ; School of Medicine, Universidad Central del Caribe, Bayamón, PRI., Izquierdo N; Department of Surgery, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2024 May 01; Vol. 16 (5), pp. e59452. Date of Electronic Publication: 2024 May 01 (Print Publication: 2024). |
| DOI: | 10.7759/cureus.59452 |
| Abstrakt: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2024, Jiménez-Berríos et al.) |
| Databáze: | MEDLINE |
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