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GENATLAS PHENOTYPE
last update : 24-08-2017
Symbol TAAD6
Location 10q21.1
Name thoracic aortic aneurysm with aortic dissection 6
Other name(s) aortic aneurysm, familial thoracic 8
Corresponding gene PRKG1
Other symbol(s) AAT8
Main clinical features
  • thoracic aortic aneurysms leading to either type A or type B dissections and a young age of onset of aortic dissections in both men and women
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function  
    Remark(s)
  • only the p.Arg177Gln alteration was confirmed to be disease causing, most likely as a result of its unique gain-of-function effect on PKG1 (PMID: 23910461))