作者: Bulat A. Ziganshin , Allison E. Bailey , Celinez Coons , Daniel Dykas , Paris Charilaou
DOI: 10.1016/J.ATHORACSUR.2015.04.106
关键词:
摘要: Background Hereditary factors play an important etiologic role in thoracic aortic aneurysm and dissection (TAAD), with a number of genes proven to predispose this condition. We initiated clinical program for routine genetic testing individuals TAAD by whole exome sequencing (WES). Here we present our initial results. Methods The WES was performed 102 patients (mean age 56.8 years; range 13 83; 70 males [68.6%]) TAAD. following 21-gene panel tested WES: ACTA2, ADAMTS10, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ELN, FBLN4, FLNA, FBN1, FBN2, MYH11, MYLK, NOTCH1, PRKG1, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2. Results Seventy-four (72.5%) had no medically alterations. Four (3.9%) deleterious mutation identified the FLNA genes. Twenty-two (21.6%) previously unreported suspicious variants unknown significance were 1 or more genes: FBN1 (n = 5); MYH11 4); ACTA2 2); COL1A1 TGFBR1 COL3A1 1); COL5A1 COL5A2 NOTCH1 PRKG1 TGFBR3 1). Identified mutations implications management. Conclusions Routine screening provides information that enables genetically personalized care permits identification novel responsible pathology. Analysis large data sets include associated features will help define mutational spectrum known underlying phenotype potential identify new candidate loci.