KaydedilenlerDerginizi ekleyin

Dergiler / Turkish Journal of Medical Sciences / 2017 / Cilt: 47 - Sayı: 1

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

Nagwa E.A. GABOON
Olfat SHAKER
Salwa OMRAN
Eman SHARAF
Gehan A. HEGAZY
Mohamed MASHALY
Sayfa
217–221
Yayın Tarihi
2022-11-05
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

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

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Background/aim: Congenital heart disease (CHD) is a common birth defect.
📊
Temel Bulgular & Veri:Many studies have reported GATA4 mutations in patients with CHD, mainly septal defects.
💡
Sonuç & Katkı: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
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

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

🔖

Bu Makaleye Atıf Yap

GABOON, N. E., SHAKER, O., OMRAN, S., SHARAF, E., HEGAZY, G. A., MASHALY, M. (2022). A novel mutation in exon 1 of GATA4 in Egyptian patients with congenital heart disease. Turkish Journal of Medical Sciences, Cilt: 47 - Sayı: 1, 217–221. https://ajindex.com/articles/610525

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (14)

  1. Richards AA, Garg V. Genetics of congenital heart disease. Curr Cardiol Rev 2010; 6: 91
  2. Xiang R, Fan LL, Huang H, Cao BB, Li XP, Peng DQ, Xia K. A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis. Gene 2014; 534: 320-323
  3. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39: 1890-1900
  4. Matsuoka R. GATA4 mutation and congenital cardiovascular diseases: importance of phenotype and genetic background clarification. J Mol Cell Cardiol 2007; 43: 667-669
  5. Wang E, Sun S, Qiao B, Duan W, Huang G, An Y, Xu S, Zheng Y, Su Z, Gu X et al. Identification of functional mutations in GATA4 in patients with congenital heart disease. PloS One 2013; 8: e62138
  6. Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, Lerzo F, Rossi E, Dellavecchia C, Bonaglia MC et al. Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation 2000; 102: 432-437
  7. Zhang W, Li X, Shen A, Jiao W, Guan X, Li Z. GATA4 mutations in 486 Chinese patients with congenital heart disease. Eur J Med Genet 2008; 51: 527-535
  8. Schiller NB. Two-dimensional echocardiographic determination of left ventricular volume, systolic function, and mass. Summary and discussion of the 1989 recommendations of the American Society of Echocardiography. Circulation 1991; 84: I280-287
  9. Tomita-Mitchell A, Maslen C, Morris C, Garg V, Goldmuntz E. GATA4 sequence variants in patients with congenital heart disease. J Med Genet 2007; 44: 779-783
  10. Nemer G, Nemer M. Transcriptional activation of BMP-4 and regulation of mammalian organogenesis by GATA-4 and -6. Dev Biol 2003; 254: 131-148
  11. Huang WY, Cukerman E, Liew CC. Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA. Gene 1995; 155: 219- 223
  12. Butler TL, Esposito G, Blue GM, Cole AD, Costa MW, Waddell LB, Walizada G, Sholler GF, Kirk EP, Feneley M et al. GATA4 mutations in 357 unrelated patients with congenital heart malformation. Genet Test Mol Bioma 2010; 14: 797-802
  13. Wang J, Fang M, Liu XY, Feng XY, Min LZ, Chen X, Wang X, Fang W, Liu X et al. A novel GATA4 mutation responsible for congenital ventricular septal defects. Int J Mol Med 2011; 28: 557-564
  14. Chen MW, Pang YS, Guo Y, Pan JH, Liu BL, Shen J, Liu T. GATA4 mutations in Chinese patients with congenital cardiac septal defects. Pediatr Cardiol 2010