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GENATLAS PHENOTYPE
last update : 04-11-2015
Symbol TAAD4
Location 10q23.31
Name thoracic aortic aneurysm with aortic dissection 4
Other name(s)
  • Aortic aneurysm, familial thoracic 6
  • Corresponding gene ACTA2
    Other symbol(s) TAAD2, AAT6
    Main clinical features
  • associated to aortic dissection, and arterial shunt, true arteriomyopathy, and with livedo reticularis
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function resulting in the AA substitution R149C, which altered an invariant amino acid
    Remark(s)
  • R256H is one of the more prevalent mutations and, based on its molecular location near the strand-strand interface in the actin filament, may affect F-actin stability, and histological examination of aortic tissue from patients with this mutation show decreased numbers of actin filaments arranged in a disorganized pattern (PMID: 22753406))
  • smooth muscle myosin moves R258C filaments more slowly than WT, and defective contractile function contributes to the pathogenesis of TAAD (PMID: 26153420))