FBN1

1 article(s) in the watch · Constitutional genetics

FBN1 encodes extracellular-matrix fibrillin-1. Its variants cause Marfan syndrome and related conditions.

InheritanceAutosomal dominant

Clinical spectrumAortic aneurysm/dissection, lens dislocation, skeletal features

ManagementAortic surveillance (imaging), beta-blockers/ARBs, preventive aortic surgery.

Curated publications

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients

Thoracic aortic dissection, hereditary aortopathies (FBN1, ACTA2, COL3A1, TGFBR1)