ABSTRACT
GATA6 transcription factor belongs to the GATA family and contains 2 conserved zinc ifnger DNA binding domains. GATA6 not only presents in embryonic tissues but also found in heart, lung and pancreas and is essential for the maintenance of their function.The present review focuses on the critical roles of GATA6 in heart development and atrial septal defect to provide theoretical basis for diagnosis and treatment of atrial septal defect.
ABSTRACT
ObjectiveTo identify mutations ofGATA4 andGATA6 genes in children with isolated congenital atrial septal defect (ASD).Methods From November 2012 to November 2013, 101 patients with ASD (99 unrelated patients and one twin) who were submitted to catheter-based intervention and 100 ethnicity-matched children without congenital heart disease, blood disorders and chromosomal abnormalities were enrolled. The blood was collected. The coding regions and lfanking regions of theGATA4 andGATA6 genes were ampliifed by polymerase chain reaction and sequenced using the dideoxvnucleotide chain termination technique, and then compared with the normal sequence in the Genbank.Results Two novel heterozygous missense GATA6mutations, c. G145A and c. G151A, were identiifed in 2 unrelated ASD patients, which were not present in the controls. These two mutations predicted the conversion of glycine into serine at amino acid residue 49 (G49S) and glutamate into lysine at amino acid residue 52 (K52E). A heterozygous missenseGATA6 mutation c.43 G>C, which caused a conversion from glycine to arginine, was found in 9 ASD patients and 7 controls. A single nucleotide polymorphism c.99G>T, which did not cause amino acid conversion inGATA4 gene, was found.ConclusionsGATA6 gene is an important transcription factor in heart development. The mutation ofGATA6 gene may cause the change of its transcriptional activity, and lead to ASD.