GATA4 mutations in Chinese patients with congenital cardiac septal defects.

Pediatric Cardiology
Ming-wu ChenTang-wei Liu

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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Citations

Jun 1, 2012·Medical Science Monitor : International Medical Journal of Experimental and Clinical Research·Yi-Qing YangWei-Yi Fang
Jan 5, 2013·International Journal of Medical Sciences·Dong WeiYi-Qing Yang
Dec 29, 2010·Pediatric Cardiology·Xing-Yuan LiuYi-Han Chen
Mar 6, 2019·Molecular Genetics & Genomic Medicine·Eman G BehiryNessrine E Salem
Mar 19, 2014·International Journal of Molecular Medicine·Lin-Mei ShiYi-Qing Yang
Sep 13, 2019·Genesis : the Journal of Genetics and Development·Zhengshan ZhaoGuoying Huang
Nov 24, 2012·International Journal of Molecular Medicine·Ri-Tai HuangYi-Qing Yang
Mar 7, 2017·Turkish Journal of Medical Sciences·Olfat ShakerNagwa E A Gaboon
Jun 13, 2021·Seminars in Thoracic and Cardiovascular Surgery. Pediatric Cardiac Surgery Annual·Richard W Kim

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