title: Detection and putative effect of GATA4 gene variants in patients with congenital cardiac septal defects.
abstract: The zinc finger transcription factor GATA4, located on chromosome 8p23.1-p22, has been implicated as a critical regulator of cardiac development during embryogenesis. Mutations of GATA4 appear to be responsible for some cardiac septal defects. The aim of this work was to screen for mutations in the GATA4 gene in sample of Egyptian patients affected by isolated and non-isolated cardiac septal defects. We examined 20 patients with atrial septal defect (ASD), ventricle septal defect (VSD), atrioventricular septal defects (AVSD) and A-V canal disturbance defect and compared with examined 10 unaffected individuals as normal control. The patients were referred from Congenital Heart Disease Clinic of the Clinical Genetics department at the National Research Centre. All patients were subjected to clinical evaluation, echocardiography and karyotyping. Genomic DNA was extracted from all cases and subjected to PCR followed by direct sequencing. The predicted effect of variants was done by a variety of proper prediction tools. We detected six variants in GATA4 gene, two of them are novel variants. Predicted functional analysis of the relevant variants was performed by In silico analysis. Further confirmatory studies on familial segregation and in vitro / in vivo functional analysis are recommended to support our results.
authors.affiliation: Banha University Faculty of Medicine Banha Egypt.
authors.forename: M A
authors.initials: MA
authors.lastname: Al-Azzouny
authors.affiliation: National Research Centre Clinical Genetics Department, Human Genetics & Genome Research Division Dokki Egypt.
authors.forename: M O
authors.initials: MO
authors.lastname: El Ruby
authors.affiliation: Banha University Faculty of Medicine Banha Egypt.
authors.forename: H A
authors.initials: HA
authors.lastname: Issa
authors.affiliation: Banha University Faculty of Medicine Banha Egypt.
authors.forename: E G
authors.initials: EG
authors.lastname: Behiry
authors.affiliation: Banha University Faculty of Medicine Banha Egypt.
authors.forename: N R
authors.initials: NR
authors.lastname: Elsayed
authors.affiliation: National Research Centre Molecular Genetics and Enzymology Department, Human Genetics & Genome Research Division Dokki Egypt afayez_nrc@yahoo.com.
authors.forename: A G
authors.initials: AG
authors.lastname: Fayez
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004534:Egypt / Q000453:epidemiology; D005260:Female; D050991:GATA4 Transcription Factor / Q000235:genetics*; D014644:Genetic Variation; D006343:Heart Septal Defects / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D009690:Nucleic Acid Conformation; D011446:Prospective Studies; D012333:RNA, Messenger / Q000737:chemistry / Q000235:genetics
chemical_list: D050991:GATA4 Transcription Factor; D012333:RNA, Messenger