The research of causative genes and phenotypic features in Chinese families with thoracic aortic aneurysm and dissec-tion
10.3760/cma.j.issn.1001-4497.2016.02.006
- VernacularTitle:家族性胸主动脉瘤－夹层致病基因鉴定及表型特征研究
- Author:
Jun ZHENG
;
Mingjie LU
;
Songbo DONG
;
Xudong PAN
;
Lijian CHENG
;
Qinghe XING
;
Lizhong SUN
- Publication Type:Journal Article
- Keywords:
Familial thoracic aortic aneurysm and dissection;
Exome capture;
High throughput sequencing;
TGFBR1;
ACTA2
- From:
Chinese Journal of Thoracic and Cardiovascular Surgery
2016;32(2):84-88
- CountryChina
- Language:Chinese
-
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.
