One Novel5’Splice Site Mutation Of ACTC1Gene Might Play A Important Role In Ventricular Septal Defect (VSD)

BACKGROUND:As a candidate gene with congenital heart disease (CHD), ACTC1gene has been found related to familial atrial septal defect (ASD). But remain few studies have been conducted about ACTC1gene and congenital heart disease (CHD) in humans.PURPOSE:The aim of this study was to identify mutations in ACTC1gene in110Chinese families with one CHD patient at least, and to provide more insights into the etiology of CHD.METHODS:A case-control study was conducted. Six exons and nearby introns of ACTC1gene in110families with one CHD patient at least and300with no reported cardiac phenotype controls were amplified, using polymerase chain reaction (PCR) with5pairs of ACTCl gene-specific primers. PCR products were for the screening of mutations.RESULTS:We have found one novel heterozygous G-to-A variants at the third nucleotide of the intron downstream of exon5.This5’Splice Site mutation have found In a5-year-old female with a isolated VSD and her30-year-old father, who had no reported cardiac phenotype. This mutation is not detected in300controls.CONCLUSIONS:The novel heterozygous G-to-A variant is at the third nucleotide of the intron downstream of exon5of ACTC1gene may be associated with VSD. The mutation detected in this research is likely to be significant because they were not identified in otherwise healthy subjects. To our knowledge, the current study is the first to report that mutation all over the world.