A novel 5' splice site mutation in ACTC1 gene may play an important role in congenital ventricular septal defect★

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As a candidate gene of congenital heart disease, ACTC1 gene is related to congenital atrial septal defect in humans.


To perform a mutation screen of ACTC1 gene in 110 nuclear families of congenital heart disease.


A case-control study was conducted based on 110 nuclear families of congenital heart disease and 300 normal human beings with no reported cardiac malformation. Six fragments in the coding region of ACTC1 gene was amplified by PCR in vitro using five primers pairs. PCR products were screened for gene mutations.


A novel G-to-A variant was found at the third nucleotide of the intron downstream from exon 5. This mutation existed in a 5-year-old female with an isolated ventricular septal defect and her 30-year-old father, who had no reported cardiac anomalies. This mutation was not detected in 300 normal controls. These findings indicate that the mutation may be related with congenital ventricular septal defects in humans.

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