Related Experiment Video

Updated: Jun 27, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.7K

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

Gabriel A Jiménez-Berríos1, Sebastián J Vázquez-Folch1, Natalio Izquierdo2

  • 1Department of Ophthalmology, School of Medicine, Universidad Central del Caribe, Bayamón, PRI.

Cureus
|April 26, 2024
PubMed

Insights

A novel fibrillin-1 (FBN1) gene variant has been identified as the cause of Marfan syndrome (MFS) in a patient. Further research is needed to understand this FBN1 variant's role in MFS and camptodactyly.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Science

Background:

  • Marfan syndrome (MFS) is a genetic disorder affecting connective tissue.
  • Mutations in the fibrillin-1 (FBN1) gene are the primary cause of MFS.
  • Diagnosis relies on clinical findings and genetic testing.

Observation:

  • A 29-year-old female presented with clinical features consistent with MFS, including musculoskeletal, cardiovascular, and ocular abnormalities.
  • Genetic analysis revealed a previously undescribed, novel pathogenic variant in the FBN1 gene.

Findings:

  • The identified novel FBN1 variant is associated with the patient's Marfan syndrome phenotype.
  • This specific FBN1 mutation has not been previously reported in the literature.

Implications:

  • This discovery expands the known spectrum of FBN1 mutations causing Marfan syndrome.
  • Further investigation is warranted to explore the potential link between this FBN1 variant and camptodactyly in MFS patients.
Keywords:
autosomal dominantcamptodactylyectopia lentisfibrillinmarfan syndrome

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