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BMC Med Genet. 2016 Jul 18;17(1):45. doi: 10.1186/s12881-016-0310-6.

Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm.

Ke T1,2, Han M1,2, Zhao M1,2, Wang QK1,2,3,4, Zhang H1,2, Zhao Y1,2, Ruan X5, Li H1,2, Xu C1,2, Sun T6.

Author information

1
The Key Laboratory of Molecular Biophysics of Chinese Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
2
Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, China.
3
Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
4
Center for Cardiovascular Genetics, Cleveland Clinic, Cleveland, OH, 44195, USA.
5
Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
6
Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. suntucheng@126.com.

Abstract

BACKGROUND:

Aortic aneurysms and/or dissection (AADs) in the aorta are a leading cause of human morbidity and mortality. To date, data on non-syndromic thoracic AADs (TAADs) have been mainly derived from Caucasians, and the genetic basis of TAADs remains to be elucidated. In this study, we assessed gene mutations in a Chinese population with TAADs.

METHODS:

A cohort of 68 non-syndromic familial TAAD Chinese patients was screened for the most common TAAD-causing genes (ACTA2, MYH11, TGFBR1, TGFBR2, and SMAD3) using high-resolution melting (HRM) analysis. Thereafter, 142 unrelated non-syndromic sporadic cases were recruited and further analyzed using HRM analysis to estimate the prevalence of disease-causing mutations in these candidate genes.

RESULTS:

Two novel ACTA2 mutations (N117I and L348R) were identified in each familial TAAD proband separately, and an additional novel ACTA2 mutation (Y168N) was identified in one patient with sporadic TAADs. In contrast, none of the three mutations occurred in 480 control subjects. Also, no other gene mutations were identified in this cohort of Chinese TAAD patients.

CONCLUSIONS:

The current study identified three novel ACTA2 mutations in Chinese TAAD patients, and these mutations represented the most predominant genes responsible for non-syndromic TAADs. In addition, HRM analysis was shown to be a sensitive and high-throughput method for screening gene mutations.

KEYWORDS:

ACTA2; Chinese population; Gene mutation; Thoracic aortic aneurysm and dissection

PMID:
27431987
PMCID:
PMC4950238
DOI:
10.1186/s12881-016-0310-6
[Indexed for MEDLINE]
Free PMC Article

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