室间隔缺损中 SAL-Like 4（SALL4）的遗传变异。
Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect.
机构信息
National Research Institute for Family Planning, Beijing, 100081, China; Graduate School, Peking Union Medical College, Beijing, China.
College of Biological Sciences, China Agricultural University, Beijing, 100193 China.
出版信息
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).
背景
室间隔缺损（VSD）约占先天性心脏病（CHD）的一半。已经确定 SAL-Like 4（SALL4）基因突变是 Okihiro 综合征的病因，其特征是肢体和多个其他器官发育缺陷，包括心脏缺陷。
方法
我们使用 DNA 测序方法在 300 名非综合征性 VSD 患者和 250 名无报告心脏表型对照中筛选 SALL4 基因编码区的突变。
结果
我们在 300 名非综合征性 VSD 患者中发现了两个新的变体：c.586C>T（p.Arg196Trp）和 c.2389A>T（p.Ser797Cys）。
结论
这两个非同义变异位于 SALL4 进化上保守的残基中，氨基酸的变化可能影响 SALL4 的功能。我们的发现首次表明 SALL4 可能是室间隔缺损（VSD）的潜在候选基因。
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