Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect

Int J Cardiol. 2010 Nov 19;145(2):224-226. doi: 10.1016/j.ijcard.2009.05.067. Epub 2009 Jul 19.


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).

Publication types

  • Comparative Study
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Genetic Markers / genetics
  • Genetic Variation / genetics*
  • Heart Septal Defects, Ventricular / diagnosis
  • Heart Septal Defects, Ventricular / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics
  • Transcription Factors / genetics*


  • Genetic Markers
  • SALL4 protein, human
  • Transcription Factors