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GATA4 Mutations in Chinese Patients with Congenital Cardiac Septal Defects

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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.

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Acknowledgments

We appreciate all of the members who participated in this study. We are in debt to Professor Huaidong Song, State Key Laboratory of Medical Genomics, Ruijin Hospital, Medical School, Shanghai Jiaotong University, for help with excellent technical assistance. We gratefully acknowledge Huili Yan, Department of Pediatrics, The First Affiliated Hospital of Bengbu Medical College, for her assistance in obtaining informed consent and blood collection.

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Authors and Affiliations

  1. Department of Pediatrics, Anhui Provincial Hospital Affiliated to Anhui Medical University, 17 Lujiang Road, 230001, Hefei, People’s Republic of China

    Ming-wu Chen & Jia-hua Pan

  2. Department of Pediatrics, The First Affiliated Hospital, Guangxi Medical University, 6 Shuang yong Road, 530021, Nanning, People’s Republic of China

    Ming-wu Chen & Yu-sheng Pang

  3. Department of Cardiology, Shanghai Children’s Medical Center Affiliated to Shanghai Jiaotong University, 1678 Dongfang Road, 200127, Shanghai, People’s Republic of China

    Ying Guo

  4. State Key Laboratory of Medical Genomics, Shanghai Jiaotong University Medical School, 197 Ruijin Road II, 200025, Shanghai, People’s Republic of China

    Bing-li Liu

  5. Department of Cardiology, Shanghai Children’s Hospital Affiliated to Shanghai Jiaotong University, 1400 Beijing West Road, 200040, Shanghai, People’s Republic of China

    Jie Shen

  6. Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, 6 Shuangyong Road, 530021, Nanning, People’s Republic of China

    Tang-wei Liu

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  1. Ming-wu Chen
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Correspondence to Tang-wei Liu.

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Chen, Mw., Pang, Ys., Guo, Y. et al. GATA4 Mutations in Chinese Patients with Congenital Cardiac Septal Defects. Pediatr Cardiol 31, 85–89 (2010). https://doi.org/10.1007/s00246-009-9576-1

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  • DOI: https://doi.org/10.1007/s00246-009-9576-1

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