Objective:The aim of this study was to search for a novel SOX7 mutation and to assess its function in sporadic congenital heart disease(CHD).Methods:116 children suffering from sporadic CHD and 228 non-CHD children were enrolled.Sequencing assay of SOX7 gene was performed to detect a new CHD-causing mutation.Then,SOX7 gene was cloned and wild-type eukaryotic expression vector SOX7-pcDNA3.1 was generated.The mutant-type SOX7-pcDNA3.1 expression vectorwas created via site-directed mutagenesis.HeLa cells were transfected with expression vectors using lipofectamine,and the functional impact of mutant-type SOX7 was assessed by utilizing dual-reporter genes.Results:A novel SOX7 mutation,NM_031439.4:c.361C＞T;p.(Gln121*),was identified in a boy with a sporadic congenital ventricular septal defect,which was not detected in the remaining 115 children with sporadic CHD as well as in 228 non-CHD children.Dual-reporter gene measurement unveiled that Gln121*-mutant SOX7 lost the transcriptional activation on its key target gene GATA4.Conclusion:SOX7 mutation may cause sporadic CHD in a minority of patients,implying its potential usefulness for the personalized prophylaxis and treatment of congenital CHD.
维普
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