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GATA4 mutations in Chinese patients with congenital cardiac septal defects
Ming-wu Chen1, Yu-sheng Pang, Ying Guo
1Department of Pediatrics, Anhui Provincial Hospital Affiliated to Anhui Medical University, 17 Lujiang Road, 230001 Hefei, People's Republic of China.
Insights
Researchers identified two novel GATA4 gene mutations in Han Chinese children with congenital cardiac septal defects. These findings suggest a potential link between GATA4 gene mutations and these heart conditions.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Background:
- Congenital cardiac septal defects are common heart abnormalities.
- The GATA4 gene plays a crucial role in heart development.
Purpose of the Study:
- To investigate GATA4 gene mutations in Han Chinese patients with congenital cardiac septal defects.
- To identify potential genetic factors contributing to these defects.
Main Methods:
- Studied 50 Han Chinese patients with sporadic and familial cardiac septal defects and 200 controls.
- Amplified GATA4 gene exons and intron-exon boundaries using polymerase chain reaction (PCR).
- Sequenced PCR products using an ABI PRISM 3730 Automatic DNA sequencer.
Main Results:
- Discovered two novel heterozygous GATA4 mutations (His28Tyr in exon 2, His436Tyr in exon 7) in 10% of patients.
- These mutations were absent in the control group and not found in the SNP database.
- No GATA4 mutations were identified in familial atrial or ventricular septal defects.
Conclusions:
- GATA4 gene mutations may be associated with congenital cardiac septal defects in Han Chinese individuals.
- Further research is needed to confirm the role of GATA4 in the etiology of these defects.
Abstract:
The object of the study was to elucidate the mutations of the GATA4 gene in Han ancestry patients with congenital cardiac septal defects. Fifty Han ancestry patients with sporadic and familial cardiac septal defects and 200 normal subjects of the same ethnical background were studied. A total of six exons and the intron-exon boundaries of GATA4 were amplified by polymerase chain reaction (PCR). The PCR products were purified and directly sequenced with an ABI PRISM 3730 Automatic DNA sequencer. Two novel heterozygous mutations were discovered in the GATA4 gene in five children with cardiac septal defects (10%, 5/50), His28Tyr in exon 2 and His436Tyr in exon 7, respectively, which were neither found in the control population nor reported in the SNP database at the website http://www.ncbi.nlm.nih.gov/SNP. In addition, we did not identify any mutations in GATA4 in three familial atrial septal defects and two familial ventricular septal defects. Our finding suggests that the mutations in the transcription factor GATA4 might be related to congenital cardiac septal defects in Han ancestry patients.
