title: Analysis of mutations in 7 candidate genes for dextro-Transposition of the great arteries in Chinese population.
abstract: BACKGROUND
  Transposition of great arteries (TGA) represents the most frequent cyanotic heart defect diagnosed in the neonatal period. Several genes had been identified to be associated with the pathogenesis of dextro-transposition of the great arteries (d-TGA). These genes are located in different chromosomes and their mutations can only explain few clinical cases. Besides, no genetic scan for TGA has been implemented in China.
  
  
  METHODS
  To evaluate whether aberrations in any of the 13 reported mutations in seven genes (MED13L, ZIC3, CFC1, NODAL, FOXH1, GDF1 and NKX2-5) could completely or in part be the genetic component involved in TGA in Chinese population, we screened 102 Chinese patients with d-TGA by direct sequencing for mutations within the seven genes.
  
  
  RESULTS
  We found none of the reported 13 mutations in those 102 Chinese d-TGA patients.
  
  
  CONCLUSIONS
  These reported 13 mutations may not be a common cause of d-TGA in Chinese population due to racial variation and genetic heterogeneity of TGA. New approaches including the whole exome sequencing technology are required to effectively identify genetic variants in TGA patients in China.
authors.affiliation: 1 Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 2 Department of Hepatobiliary Pancreatic Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China ; 3 Medical Research Center of Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 4 Department of Pediatrics of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
authors.forename: Liming
authors.initials: L
authors.lastname: Lei
authors.affiliation: 1 Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 2 Department of Hepatobiliary Pancreatic Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China ; 3 Medical Research Center of Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 4 Department of Pediatrics of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
authors.forename: Haoming
authors.initials: H
authors.lastname: Lin
authors.affiliation: 1 Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 2 Department of Hepatobiliary Pancreatic Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China ; 3 Medical Research Center of Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 4 Department of Pediatrics of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
authors.forename: Shilong
authors.initials: S
authors.lastname: Zhong
authors.affiliation: 1 Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 2 Department of Hepatobiliary Pancreatic Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China ; 3 Medical Research Center of Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 4 Department of Pediatrics of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
authors.forename: Zhiwei
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: 1 Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 2 Department of Hepatobiliary Pancreatic Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China ; 3 Medical Research Center of Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 4 Department of Pediatrics of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
authors.forename: Jimei
authors.initials: J
authors.lastname: Chen
authors.affiliation: 1 Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 2 Department of Hepatobiliary Pancreatic Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China ; 3 Medical Research Center of Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 4 Department of Pediatrics of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
authors.forename: Xin-Xin
authors.initials: XX
authors.lastname: Li
authors.affiliation: 1 Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 2 Department of Hepatobiliary Pancreatic Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China ; 3 Medical Research Center of Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 4 Department of Pediatrics of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
authors.forename: Xiyong
authors.initials: X
authors.lastname: Yu
authors.affiliation: 1 Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 2 Department of Hepatobiliary Pancreatic Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China ; 3 Medical Research Center of Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 4 Department of Pediatrics of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
authors.forename: Xaioqing
authors.initials: X
authors.lastname: Liu
authors.affiliation: 1 Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 2 Department of Hepatobiliary Pancreatic Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China ; 3 Medical Research Center of Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China ; 4 Department of Pediatrics of Guangdong Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Zhuang
keywords: Chinese; dextro-transposition of the great arteries (d-TGA); mutation