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Updated: Sep 6, 2025

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Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese

Renle Guo1,2, Pengcheng Du1, Yifei Pei1

  • 1Department of Vascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, China.

Frontiers in Genetics
|June 27, 2022
PubMed

Insights

Genetic variants in COL3A1 and ACTA2 are linked to familial thoracic aortic aneurysms and dissections (TAAD). Identifying these mutations aids in early screening and intervention for affected families.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Molecular Biology

Background:

  • Thoracic aortic aneurysms and dissections (TAAD) are life-threatening vascular conditions.
  • Heritable forms of TAAD are linked to pathogenic variants in various genes.
  • Early diagnosis and family screening are crucial for preventing fatal outcomes.

Purpose of the Study:

  • To identify the genetic underpinnings of familial Thoracic Aortic Aneurysms and Dissections (TAAD).
  • To establish an evidence-based strategy for gene selection in familial TAAD screening.
  • To inform family screening and intervention protocols for TAAD.

Main Methods:

  • Whole-exome sequencing was performed on four individuals from three unrelated families with TAAD.
  • Variant evaluation was conducted to pinpoint pathogenic mutations.
  • Genetic analysis focused on identifying causative genes for familial TAAD.

Main Results:

  • Mutations in COL3A1 and ACTA2 were identified as key genetic drivers of familial TAAD.
  • FBLN5, FBN1, SLC2A10, FBN2, and NOTCH1 were highlighted as potential candidate genes.
  • The study identified specific genetic mutations responsible for TAAD in the investigated families.

Conclusions:

  • COL3A1 and ACTA2 mutations are significant causes of familial TAAD.
  • Identifying these genetic variants is essential for early diagnosis and treatment.
  • Family medical history and screening of relatives are vital for TAAD management.

Keywords:
familial inheritancepathogenesissusceptibility genethoracic aortic aneurysms and dissectionswhole-exome sequencing

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