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

BMC Medical Genetics
Tie KeTucheng Sun


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


Nov 27, 2004·Clinica Chimica Acta; International Journal of Clinical Chemistry·Lei SongRutai Hui
Aug 1, 2006·American Journal of Ophthalmology·Tie KeMu-Gen Liu
Sep 26, 2006·The Annals of Thoracic Surgery·Gonzalo AlbornozJohn A Elefteriades
Jun 12, 2008·Annual Review of Genomics and Human Genetics·Dianna M MilewiczHariyadarshi Pannu
May 7, 2009·Human Mutation·Rolf H A M VossenJohan T den Dunnen
Jan 21, 2011·European Journal of Human Genetics : EJHG·Sabine HoffjanThomas Scheffold
Feb 4, 2011·The Journal of Biological Chemistry·Sarah E BergeronHeather L Bartlett
Sep 23, 2011·International Journal of Cardiology·Marjolijn RenardJulie De Backer
Jul 10, 2012·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Wen-Jing WangXiao-Li Tian
Sep 22, 2012·Clinica Chimica Acta; International Journal of Clinical Chemistry·Tze-Kiong Er, Jan-Gowth Chang
Oct 27, 2012·Circulation. Cardiovascular Genetics·Katharine J BeeCathy J Hatcher

Related Concepts

TGFBR2 gene
Morbidity Aspects
MYH11 wt Allele
TGFBR2 wt Allele
Candidate Disease Gene
TGFBR1 wt Allele

Related Feeds

Cardiac Aneurysm

Aneurysm refers to a bulge of the wall or lining of a vessel commonly occurring in the blood vessels at the base of the septum or within the aorta. In the heart, it usually arises from a patch of weakened tissue in a ventricular wall, which swells into a bubble filled with blood. Discover the latest research on cardiac aneurysm here.

Aortic Aneurysm

An aortic aneurysm is the weakening and bulging of the blood vessel wall in the aorta. This causes dilatation of the aorta, which is usually asymptomatic but carries the risk of rupture and hemorrhage. Find the latest research on aortic aneurysms here.