Document Details

Document Type : Thesis 
Document Title :
Genetic Analysis of GATA4 Transcription Factor in Patients with Non-syndromic Congenital Heart Defects
التحليل الجيني لعامل النسخGATA4 لدى المرضى المصابين باعتلال القلب الخلقي الغير مرتبط بمتلازمة
 
Subject : Faculty of Sciences 
Document Language : Arabic 
Abstract : Congenital heart defects (CHDs) are the most common congenital malformations in humans, specifically among newborn. The etiology of CHDs remains largely unknown. Genetic factors such as chromosomal anomalies and monogenic disorders contribute to the etiology of CHDs. GATA4 gene is a zinc finger transcription factor that regulates cardiac development in human embryos. The study aimed to identify mutations in GATA4 gene among patients with different types of CHDs. The study included 46 non-syndromic CHD patients and 11 healthy individuals with no history of CHD as control. Patients were referred from the Pediatric Cardiology Clinic, KAUH to the CEGMR for genetic diagnosis. Screening for mutations was done using automated DNA sequencing analysis using Genetic Analyzer 3130. Results indicated that the synonymous mutation C/T (rs61277615) at promoter region in exon 1 was detected in 7/46 patients compared to 2/11 in controls. However, no mutations were detected in exons 3, 4 and 5. Three missense mutations were detected in exon6, (Ser377Gly) in 6 patients and 2 from controls, the mutation (Val380Met) was detected in one patient with absent pulmonary valve and missense mutation (Gly375Arg) was detected in 3 patients with septal defects but both were not found in controls. Two synonymous mutations were detected in exon 6: (Gln382 Gln) was detected in one patient with atrioventricular septal defect (AVSD) and (Asn352Asn) detected in a patient with total anomalous pulmonary venous drainage, both were not detected in controls. Eight synonymous mutations were detected in exon 7; SNP (rs1062219) C/T was detected in 14 patients compared to eight controls. Also SNP A/C (rs867858) detected in 17 patients compared to7 controls. The T/C (rs7008652) SNP was detected in 2 patients with Ventricular septal defect (VSD) and G/C (rs 3729857) SNP was detected in one patient with Double outlet right ventricle (DORV) but were not detected in controls. The SNP T/C (rs904018) was detected in 25 patients compared to 7 in controls. Another SNPT/C (rs884662) detected in 14 patients compared to 7 controls. The SNPC/G (rs12825) detected in 25 patients compared to 8 in controls and SNPG/A (rs804290) detected in two patients compared 3 in controls. Our results reflect that GATA4 missense sequence mutations were associated with non-syndromic CHDs with diverse cardiac defects in Western region of Saudi Arabia. Synonymous variants were found in large number of our patients mainly in the 3` UTR region of the gene which may provide additional molecular rationale for CHDs. 
Supervisor : Dr. Ola I. El-Hamshary 
Thesis Type : Master Thesis 
Publishing Year : 1438 AH
2017 AD 
Co-Supervisor : Prof. Ibtessam M. Hussein 
Added Date : Sunday, March 5, 2017 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
نورة يسلم باقطيانBagtian, Noura YaslamResearcherMaster 

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