GATA4 mutations in 486 Chinese patients with congenital heart disease

Zhang, Weimin; Li, Xiaofeng; Shen, Adong; Jiao, Weiwei; Guan, Xiaolei; Li, Zhongzhi

doi:10.1016/j.ejmg.2008.06.005

Cited by 94 publications

(74 citation statements)

References 26 publications

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“…27 Mutations in GATA4 TAD regions have been related to septal defects in different studies. 10,17 This study found that the identified mutation in GATA6 TAD region was also associated with ASDs, further supporting the point of a redundant role between GATA4 and GATA6 in cardiogenesis as mentioned earlier. 7,20,21,27,28 A disrupted interaction between GATA4 and TBX5 is involved in ASDs in both humans and mice.…”

Section: Discussionsupporting

confidence: 85%

“…9 Numerous mutations in GATA4 have been recognized in a wide range of cases, including tetralogy of Fallot (TOF), pulmonary stenosis, atrial septal defects (ASDs), ventricular septal defects, atrioventricular septal defects and patent ductus arteriosus. 4,[10][11][12][13][14][15][16][17] GATA6 is another member of the GATA family with expression and functions that overlap with GATA4 during cardiovascular development. 7 Recent experiments in animals have revealed critical roles for GATA6 in the development of the myocardium and cardiac morphogenesis, highlighting the potential involvement of GATA6 mutations in the pathogenesis of human CHD.…”

Section: Introductionmentioning

confidence: 99%

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A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect

et al. 2010

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GATA6 is a member of the GATA family of transcription factors, and its expression and functions overlap with those of GATA4 during heart development. Mutations in GATA4 have been related to human congenital heart diseases (CHDs) in several studies, whereas mutations in GATA6 have only recently been reported in patients with persistent truncus arteriosus. Animal experiments have revealed critical roles for GATA6 in the development of the myocardium and cardiac morphogenesis, thereby highlighting the potential involvement of GATA6 defects in the pathogenesis of CHDs. Here, we screened the GATA6 in 270 individuals with sporadic CHDs by direct sequencing. After identification of the mutation, a luciferase reporter assay and real-time quantitative polymerase chain reaction were performed to detect functional changes in the mutant transcription factor. The same heterozygous missense mutation (Ser184Asn) was identified in three patients, including one with tetralogy of Fallot and two with atrial septal defects. This mutation was not found in 500 unrelated ethnically matched healthy subjects. Direct sequencing of this region in the parents of these three patients revealed the same mutation in one of the parents for each patient, and one of the parent carriers presented with a bicuspid aortic valve. Biological analysis revealed clearly decreased transcriptional activity of GATA6 Ser184Asn in vitro. All these data suggest that GATA6 Ser184Asn is a novel mutation associated with CHDs and has an important role in disease pathogenesis.

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Section: Discussionsupporting

confidence: 85%

Section: Introductionmentioning

confidence: 99%

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect

et al. 2010

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“…So far, the G296S variant of the GATA4 gene has been reported mainly in familial cases of CHD with the septation defect (8) (11,15). Nevertheless, several studies (Japan (16), China (17)(18)(19)(20)(21)(22), Denmark (23) and Indonesia (24)) failed to detect the G296S variant of the GATA4 gene in CHD patients despite including familial cases of CHD as well as cases with septation defects. Their reports were in agreement with the findings of our study, which included 52 cases of VSD and 16 case of ASD.…”

Section: Discussionmentioning

confidence: 99%

Genotyping of GATA4 Gene Variant (G296S) in Malaysian Congenital Heart Disease Subjects by Real-Time PCR High Resolution Melting Analysis

Fawzi¹,

Ramachandran²,

Ismail³

et al. 2013

Journal of Medical Biochemistry

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SummaryBackground: Congenital heart disease (CHD) is the most common birth defect; however, the underlying etiology is unrecognized in the majority of cases. GATA-binding protein 4 (GATA4), a cardiac transcription factor gene, has a crucial role in the cardiogenesis process; hence, a number of heterozygote sequence variations were identified as a cause of CHD. G296S heterozygote variant is the most frequently reported GATA4 gene sequence alteration. This study aims to investigate the role of G296S variant of the GATA4 gene in Malaysian CHD subjects. Methods: We have investigated 86 Malaysian CHD subjects with cardiac septation defects for the presence of the GATA4 gene heterozygote variant (G296S) by the new technology of high resolution melting (HRM) analysis. Results: Genotyping of G296S (c.886G>A) by HRM analysis shows that all the sample genotypes were of the wild GG

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“…Four of the patients with sequence variation showed positive consanguinity (4/15, 26.6%). However, consanguinity has no role in this situation, as all detected (4,5,7,12,15). Our study population was composed of small numbers for each type of cardiac malformation.…”

Section: Discussionmentioning

confidence: 99%

“…Numerous heterozygous mutations have been distinguished in previous mutation screenings of GATA4 (MIM: 600576) with sporadic or familial CHD (2,5,7). Not much is known about the common mutations in patients with CHD in Egypt.…”

Section: Introductionmentioning

confidence: 99%

A novel mutation in exon 1 of GATA4 in Egyptian patients with congenital heart disease

et al. 2017

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Background/aim: Congenital heart disease (CHD) is a common birth defect. Many studies have reported GATA4 mutations in patients with CHD, mainly septal defects. This study aimed to investigate the GATA4 exon 1 mutation in Egyptian patients with isolated congenital heart defects as a possible causative mutation. Materials and methods:Screening for mutations or any sequence variations in exon 1 of the GATA4 gene was carried out by PCR amplification followed by direct sequencings in 165 Egyptian patients with different nonsyndromic congenital heart diseases and 93 controls who were matched in terms of age and sex. Thorough clinical assessments were done for all subjects, along with X-ray, 2D echocardiography, and Doppler examinations. Results:The most common CHD among our cases was isolated ventricular septal defect (VSD) in 47.3% (78/165), followed by isolated atrial septal defect. A novel nonsynonymous sequence variation in fragment 2 (P193H) of exon 1 of GATA4 was detected in 15 (9.1%) of the subjects with septal defects. This mutation was not seen in any of the control group subjects. Conclusion:There is a high prevalence of exon 1 GATA4 mutation (9.1%) in our study compared to other studies in different populations, which may correlate with different ethnic populations.

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GATA4 mutations in 486 Chinese patients with congenital heart disease

Cited by 94 publications

References 26 publications

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect

Genotyping of GATA4 Gene Variant (G296S) in Malaysian Congenital Heart Disease Subjects by Real-Time PCR High Resolution Melting Analysis

A novel mutation in exon 1 of GATA4 in Egyptian patients with congenital heart disease

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