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

BMC Medical Genetics
Tie KeTucheng Sun

Abstract

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. 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. 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. The current study identified three novel ACTA2 mutations in Chinese TAAD patients, and these mutations represented the most predominant genes responsible ...Continue Reading

Citations

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Sep 26, 2006·The Annals of Thoracic Surgery·Gonzalo AlbornozJohn A Elefteriades
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Oct 27, 2012·Circulation. Cardiovascular Genetics·Katharine J BeeCathy J Hatcher

Related Concepts

TGFBR2 gene
Study
Morbidity Aspects
Genes
MYH11 wt Allele
1,3,4,6-tetra-O-acetyl-2-azido-2-deoxyglucopyranose
TGFBR2 wt Allele
N-Actin
Candidate Disease Gene
TGFBR1 wt Allele

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