Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
Joanna Kinga PonińskaZofia Teresa BilińskaGrażyna TruszkowskaEwa MichalakAnna PodgórskaMałgorzata Stępień-WojnoPrzemysław ChmielewskiAnna LutyńskaPloski RafalPublished in: Journal of translational medicine (2022)
In our cohort of unrelated TAAD patients ACMG classification tool available at VarSome was useful in assessing pathogenicity of novel genetic variants. Gene panel containing the established genes associated with the highest risk of hereditary TAAD (ACTA1, COL3A1, FBN1, MYH11, SMAD3, TGFB2, TGFBR1, TGFBR2, MYLK) was sufficient to identify prevailing majority of variants most likely to be causative of the disease.
Keyphrases
- copy number
- end stage renal disease
- newly diagnosed
- healthcare
- aortic valve
- biofilm formation
- spinal cord
- epithelial mesenchymal transition
- genome wide
- single cell
- hypertrophic cardiomyopathy
- heart failure
- transforming growth factor
- dna methylation
- gene expression
- escherichia coli
- pulmonary artery
- signaling pathway
- atrial fibrillation
- cord blood
- pulmonary hypertension