Novel pathogenicSMAD2variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

Background Missense variants in SMAD2 , encoding a key transcriptional regulator of transforming growth factor beta signalling, were recently reported to cause arterial aneurysmal disease. Objectives The aims of the study were to identify the genetic disease cause in families with aortic/arterial aneurysmal disease and to further define SMAD2 genotype–phenotype correlations. Methods and results Using gene panel sequencing, we identified a SMAD2...