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A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan

Mario Torrado1, Emilia Maneiro2, Juan Pablo Trujillo-Quintero2

  • 1Institute of Health Sciences, University of A Coruña, A Coruña, Spain.

Biomed Research International
|July 14, 2018
PubMed

Insights

A novel intronic mutation in the FBN1 gene was identified in Marfan syndrome patients. This FBN1 mutation disrupts gene splicing, leading to connective tissue fragility and aortic dilation.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiovascular Disease

Background:

  • Marfan syndrome (MFS) is an inherited connective tissue disorder.
  • Mutations in the fibrillin-1 (FBN1) gene are the primary cause of MFS.
  • Aortic dilatation is a serious complication of MFS.

Observation:

  • A novel intronic FBN1 mutation (c.2678-15C>A) was identified in an MFS patient with aortic dilatation.
  • Computational predictions suggested the variant affects FBN1 gene splicing.
  • Experimental analyses confirmed aberrant splicing due to the variant.

Findings:

  • The c.2678-15C>A variant causes abnormal inclusion of intron 22 in FBN1 mRNA.
  • This leads to a frameshift and a premature termination codon.
  • The variant results in FBN1 protein haploinsufficiency.

Implications:

  • This finding expands the understanding of the genetic basis of MFS.
  • It highlights the role of intronic mutations in FBN1-related disorders.
  • This discovery may aid in diagnosing and managing MFS patients with aortic complications.

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