Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect.
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).
Wang
Binbin
B
National Research Institute for Family Planning, Beijing, 100081, China; Graduate School, Peking Union Medical College, Beijing, China.
Li
Lin
L
College of Biological Sciences, China Agricultural University, Beijing, 100193 China.
Xie
Xiaodong
X
School of Life Science, Lanzhou University, Lanzhou, 730000 China.
Wang
Jing
J
National Research Institute for Family Planning, Beijing, 100081, China; Graduate School, Peking Union Medical College, Beijing, China.
Yan
Jinting
J
National Research Institute for Family Planning, Beijing, 100081, China; Graduate School, Peking Union Medical College, Beijing, China.
Mu
Yuan
Y
National Research Institute for Family Planning, Beijing, 100081, China; Graduate School, Peking Union Medical College, Beijing, China.
Ma
Xu
X
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.
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*
D005819:Genetic Markers; C472575:SALL4 protein, human; D014157:Transcription Factors