title: Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect.
abstract: BACKGROUND
  Ventricular septal defect (VSD) accounts for about half of congenital heart disease (CHD). SAL-Like 4 (SALL4) gene mutations have been identified to be the cause of Okihiro syndrome which is characterized by association limb and multiple other organ developmental defects including heart defect.
  
  
  METHODS
  We screened SALL4 gene coding regions for mutations using DNA sequencing approach in 300 nonsyndromic VSD patients and 250 with no reported cardiac phenotype controls.
  
  
  RESULTS
  We discovered two novel variants: c.586C>T (p.Arg196Trp) and c.2389A>T (p.Ser797Cys) in 300 nonsyndromic VSD patients.
  
  
  CONCLUSIONS
  The two non-synonymous variations were located in the SALL4 evolutionarily conserved residues and the amino acid change may affect the function of SALL4. Our finding is the first to suggest that SALL4 may be a potential candidate gene of ventricular septal defect (VSD).
authors.affiliation: National Research Institute for Family Planning, Beijing, 100081, China; Graduate School, Peking Union Medical College, Beijing, China.
authors.forename: Binbin
authors.initials: B
authors.lastname: Wang
authors.affiliation: College of Biological Sciences, China Agricultural University, Beijing, 100193 China.
authors.forename: Lin
authors.initials: L
authors.lastname: Li
authors.affiliation: School of Life Science, Lanzhou University, Lanzhou, 730000 China.
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Xie
authors.affiliation: National Research Institute for Family Planning, Beijing, 100081, China; Graduate School, Peking Union Medical College, Beijing, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: National Research Institute for Family Planning, Beijing, 100081, China; Graduate School, Peking Union Medical College, Beijing, China.
authors.forename: Jinting
authors.initials: J
authors.lastname: Yan
authors.affiliation: National Research Institute for Family Planning, Beijing, 100081, China; Graduate School, Peking Union Medical College, Beijing, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Mu
authors.affiliation: National Research Institute for Family Planning, Beijing, 100081, China; Graduate School, Peking Union Medical College, Beijing, China; World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing, China. Electronic address: Nicgr@263.net.
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
mesh_terms: D000595:Amino Acid Sequence; D005819:Genetic Markers / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C472575:SALL4 protein, human; D014157:Transcription Factors