GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease

Background Congenital heart disease (CHD) is the most common developmental anomaly in newborns.The germlinemutations in GATA4 and NKX2.5 genes have been identified as responsible for CHD.The frequency of GATA4 andNKX2.5 mutations in Chinese Uygur patients with CHD and the correlation between their genotype and CHD phenotypeare unknown.Methods We examined the coding region of GATA4 and NKX2.5 genes in 62 Chinese Uygur patients with CHD and 117Chinese Uygur individuals as the controls by denaturing high performance liquid chromatography (DHPLC) andsequencing.Results Two heterozygous missense mutations of c.1220C>A and c.1273G>A in GATA4 gene,which cause the aminoacid residue changes of P407Q and D425N in GATA4,were found in a patient with tetralogy of Fallot and a patient withventricular septal defect,respectively.The two patients did not have atrioventricular conduct defects or non-cardiacabnormalities.The two mutations are expected to affect the protein function.There were no reported NKX2.5 mutationsin the patients.Conclusion Our results provided the primary data on CHD phenotype associated with GATA4 mutation in the ChineseUygur population.