title: Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm.
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 for non-syndromic TAADs. In addition, HRM analysis was shown to be a sensitive and high-throughput method for screening gene mutations.
authors.affiliation: 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.|Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Tie
authors.initials: T
authors.lastname: Ke
authors.affiliation: 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.|Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Meng
authors.initials: M
authors.lastname: Han
authors.affiliation: 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.|Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Miao
authors.initials: M
authors.lastname: Zhao
authors.affiliation: 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.|Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, China.|Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.|Center for Cardiovascular Genetics, Cleveland Clinic, Cleveland, OH, 44195, USA.
authors.forename: Qing Kenneth
authors.initials: QK
authors.lastname: Wang
authors.affiliation: 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.|Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Huazhi
authors.initials: H
authors.lastname: Zhang
authors.affiliation: 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.|Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Xinlong
authors.initials: X
authors.lastname: Ruan
authors.affiliation: 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.|Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.affiliation: 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.|Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Chengqi
authors.initials: C
authors.lastname: Xu
authors.affiliation: Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. suntucheng@126.com.
authors.forename: Tucheng
authors.initials: T
authors.lastname: Sun
mesh_terms: D000199:Actins / Q000235:genetics*; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D000818:Animals; D017545:Aortic Aneurysm, Thoracic / Q000235:genetics* / Q000473:pathology; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002681:China; D015331:Cohort Studies; D004247:DNA / Q000737:chemistry / Q000302:isolation & purification / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D044367:Phase Transition; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment
chemical_list: C541116:ACTA2 protein, human; D000199:Actins; D004247:DNA
keywords: ACTA2; Chinese population; Gene mutation; Thoracic aortic aneurysm and dissection