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
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
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)) |