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Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue

Ilse Van Gucht1, Alice Krebsova2, Birgitte Rode Diness3

  • 1Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, 2650 Antwerp, Belgium.

International Journal of Molecular Sciences
|July 20, 2021
PubMed

Insights

Loss-of-function variants in the lysyl oxidase (LOX) gene cause a range of aortic and arterial diseases. These genetic changes are linked to thoracic aortic aneurysm and dissection (TAAD) and connective tissue abnormalities.

Area of Science:

  • Cardiovascular Genetics
  • Extracellular Matrix Biology

Background:

  • Thoracic aortic aneurysm and dissection (TAAD) poses significant cardiovascular risks.
  • Loss-of-function variants in the lysyl oxidase (LOX) gene are known causes of familial TAAD.

Observation:

  • Five new probands with LOX variants were identified using a TAAD gene panel.
  • Variants included missense mutations in the catalytic domain and truncating mutations.
  • Connective tissue abnormalities were observed in many variant carriers.
  • Disease presentation varied, with some experiencing early-onset TAAD and others normal aortic diameters later in life.
  • A patient with spontaneous coronary artery dissection was found to carry a LOX variant.

Findings:

  • Loss-of-function LOX variants are associated with a spectrum of aortic and arterial aneurysmal diseases.
  • These variants can manifest with or without connective tissue findings.
  • The spectrum includes TAAD and spontaneous coronary artery dissection.

Implications:

  • LOX variants represent a significant genetic factor in diverse arterial diseases.
  • Understanding LOX function is crucial for diagnosing and managing aneurysmal conditions.
  • Genetic screening for LOX variants may aid in early detection and personalized treatment strategies.

Keywords:
ECMLDSLOXMFSTAAD

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