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Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections

E S Regalado1, D C Guo1, R L P Santos-Cortez2

  • 1Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA.

Clinical Genetics
|December 2, 2015
PubMed

Insights

Mutations in the FBN1 gene are linked to Marfan syndrome (MFS) and familial thoracic aortic aneurysms and dissections (FTAAD). This study found FBN1 variants in 2.7% of FTAAD families, suggesting FBN1 testing is valuable for FTAAD diagnosis.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Molecular Biology

Background:

  • Marfan syndrome (MFS), caused by FBN1 mutations, leads to thoracic aortic aneurysms and dissections (TAAD).
  • Familial TAAD (FTAAD) is an inherited form of TAAD without syndromic features, with several causative genes identified.
  • The frequency of FBN1 mutations in FTAAD families is not well-established.

Purpose of the Study:

  • To determine the frequency of pathogenic FBN1 variants in families with familial thoracic aortic aneurysms and dissections (FTAAD).
  • To evaluate the role of FBN1 mutations in the genetic etiology of FTAAD.

Main Methods:

  • Exome sequencing was performed on 183 families diagnosed with FTAAD.
  • Pathogenic and rare FBN1 variants were identified and analyzed.

Main Results:

  • Pathogenic FBN1 variants were identified in 5 out of 183 (2.7%) FTAAD families.
  • An additional 8 rare FBN1 variants of uncertain significance were found in 6 families.

Conclusions:

  • FBN1 mutations are a cause of familial thoracic aortic aneurysms and dissections (FTAAD).
  • FBN1 gene sequencing should be considered in the diagnostic workup of individuals with FTAAD, even in the absence of typical Marfan syndrome features.
Keywords:
FBN1Marfan syndromefamilial thoracic aortic aneurysm and dissection

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