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Abstract Objective: To investigate the missense mutations of growth/differentiation factor 1（gdf1）gene in patients with congenital heart disease (CHD) and discuss the potential association between them. Methods: The blood sample of 100 patients with CHD and 100 normal controls were respectively collected. All the coding regions of gdf1 gene were amplified by polymerase chain reaction (PCR). The PCR products were directly sequenced and compared to GeneBank database to find mutations. Bioinformatics analysis was done to predict the influence of mutations on protein. Results: A novel missense mutation c.489G>A (p.W163C), located in the gdf1 mature protein precursor region, was identified in a patient with ventricular septal defect (VSD). Conclusion: A missense mutation of gdf1 gene in a CHD patient living in Qinghai plateau was found, which indicates that mutations in gdf1 may associate with VSD in patients living in high altitude.
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