ABSTRACT
Objective This study aimed at exploring the causative genes and summarizing the clinical characteristics in two Chinese families with thoracic aortic aneurysm and dissection ( TAAD ) .Methods The whole exome capture and high throughput sequencing were applied to identify the causative gene.Family members were examined for features of syndromic ge-netic diseases by clinician and geneticist.Results Four known TAAD candidate genes were identified in family TAA01:rs140598(FBN1), rs185661462(MYH11), rs77620762(MYLK3), and rs111426349(TGFBR1).The TGFBR1 mutation (c.1459C>T) had been confirmed to co-segregate with the TAAD phenotype in all affected family members.Early onset of aortic root dilatation was significant in this family , and the average age at diagnosis of aortic root dilatation or aneurysm was23. 2 years.ACTA2(c.445C>T) was proved in family TAA02, and livedo reticularis was confirmed.Conclusion The causa-tive genes were identified via whole exome capture and high throughput sequencing in two TAAD families .Early onset of aortic root aneurysm was proved in TAA01, while livedo reticularis was found in TAA02.