title: A novel mutation in exon 1 of GATA4 in Egyptian patients with congenital heart disease.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Departments of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Olfat
authors.initials: O
authors.lastname: Shaker
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Salwa
authors.initials: S
authors.lastname: Omran
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Eman
authors.initials: E
authors.lastname: Sharaf
authors.affiliation: Department of Medical Biochemistry, National Research Center, Cairo, Egypt.
authors.forename: Gehan
authors.initials: G
authors.lastname: A Hegazy
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Mashaly
authors.affiliation: Medical Genetic Center, Faculty of Medicine, AinShams University, Cairo, Egypt.
authors.forename: Nagwa
authors.initials: N
authors.lastname: E A Gaboon
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004534:Egypt / Q000453:epidemiology; D005260:Female; D050991:GATA4 Transcription Factor / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics
chemical_list: D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human