Abstract 17925: Genetic Testing of 440 Chinese Aortopathy Patients Using a Panel Assay

Introduction: Aortopathy which is characterized by aneurysms, dissection, dilation of the aorta, can occur secondarily to several syndromes. Because of the genetic heterogeneity, we designed a gene panel containing 15 genes responsible for inherited aortopathy, to identify genetic mutations and help make a precise diagnosis. Methods: Here we tested 440 probands with aortopathy using panel assay. Variants were screened by bioinformatics analysis and confirmed using Sanger sequencing. Multiplex ligation-dependent probe amplification(MLPA) was used to detect exonic deletions/duplications. Results: The results showed that 136 individuals (31%) tested positive for a (likely) pathogenic mutation, 123 (28%) had a variant of uncertain significance (VUS). Most of the (likely) pathogenic mutations (124/136) were located in the fibrillin-1 (FBN1) gene. Also, we found that patients with a FBN1 truncating or splicing mutation were more prone to have a severe aortic disease. Among the selected 76 MLPA individuals, 5(6....