Novel GATA4 mutations in patients with congenital ventricular septal defects

Medical Science Monitor

Volumn 18, Issue 6, 2012, Pages

  Yang, Yi Qing ^a   Wang, Juan ^b   Liu, Xing Yuan ^b   Chen, Xiao Zhong ^a   Zhang, Wei ^a   Wang, Xiao Zhou ^a   Liu, Xu ^a   Fang, Wei Yi ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b TONGJI UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Genetics; Transcription factor; Ventricular septal defect

Indexed keywords

TRANSCRIPTION FACTOR GATA 4;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; COLOR ULTRASOUND FLOWMETRY; CONTROLLED STUDY; ELECTROCARDIOGRAPHY; FEMALE; GENOTYPE; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MORPHOGENESIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84863557820     PISSN: 12341010     EISSN: 16433750     Source Type: Journal    
DOI: 10.12659/MSM.882877     Document Type: Article

References (54)

1. Lloyd-Jones D, Adams R, Carnethon M et al: American Heart Association Statistics Committee and Stroke Statistics Subcommittee: Heart disease and stroke statistics-2009 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Circulation, 2009; 119: e21-181
2. Minette MS, Sahn DJ: Ventricular septal defects. Circulation, 2006; 114: 2190-97
3. Al-Jarallah AS: Down's syndrome and the pattern of congenital heart disease in a community with high parental consanguinity. Med Sci Monit, 2009; 15(8): CR409-12
4. Orun UA, Bilici M, Yilmaz O et al: Aortic coarctation with Down syndrome. Med Sci Monit, 2011; 17(1): LE1
5. Benatar A, Decraene T, Feenstra A: Ruptured sinus of Valsalva aneurysm in a child with Down syndrome: a rare cardiac anomaly. Med Sci Monit, 2010; 16(11): CS135-37
6. Sommer RJ, Hijazi ZM, Rhodes JF Jr: Pathophysiology of congenital heart disease in the adult: part I: Shunt lesions. Circulation, 2008; 117: 1090-99
7. McQuillen PS, Miller SP: Congenital heart disease and brain development. Ann N Y Acad Sci, 2010; 1184: 68-86
8. Walsh EP: Interventional electrophysiology in patients with congenital heart disease. Circulation, 2007; 115: 3224-34
9. Walsh EP, Cecchin F: Arrhythmias in adult patients with congenital heart disease. Circulation, 2007; 115: 534-45
10. Jaworski R, Irga N, Haponiuk I et al: Candidemia in children after complex congenital heart defects surgery treated with caspofungin our own experience and a review of literature. Med Sci Monit, 2011; 17(5): PH35-39
11. Yap SC, Harris L: Sudden cardiac death in adults with congenital heart disease. Expert Rev Cardiovasc Ther, 2009; 7: 1605-20
12. Trojnarska O, Gwizdała A, Katarzyński S et al: Evaluation of exercise capacity with cardiopulmonary exercise testing and BNP levels in adult patients with single or systemic right ventricles. Arch Med Sci, 2010; 6: 192-97
13. Baghdady Y, Hussein Y, Shehata M: Vascular endothelial growth factor in children with cyanotic and acyanotic and congenital heart disease. Arch Med Sci, 2010; 6: 221-25
14. Jenkins KJ, Correa A, Feinstein JA et al; American Heart Association Council on Cardiovascular Disease in the Young: Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation, 2007; 115: 2995-3014
15. Pierpont ME, Basson CT, Benson DW Jr et al; American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation, 2007; 115: 3015-38
16. Pemberton VL, McCrindle BW, Barkin S et al: Report of the National Heart, Lung, and Blood Institute's Working Group on obesity and other cardiovascular risk factors in congenital heart disease. Circulation, 2010; 121: 1153-59
17. Pikkarainen S, Tokola H, Kerkelä R, Ruskoaho H: GATA transcription factors in the developing and adult heart. Cardiovasc Res, 2004; 63: 196-207
18. Peterkin T, Gibson A, Loose M, Patient R: The roles of GATA-4, -5 and -6 in vertebrate heart development. Semin Cell Dev Biol, 2005; 16: 83-94
19. White RA, Dowler LL, Pasztor LM et al: Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromo-some 14: Gata4 is a candidate gene for Ds (disorganization). Genomics, 1995; 27: 20-26
20. Garg V, Kathiriya IS, Barnes R et al: GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature, 2003; 424: 443-47
21. Okubo A, Miyoshi O, Baba K et al: A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J Med Genet, 2004; 41: e97
22. Sarkozy A, Conti E, Neri C et al: Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet, 2005; 42: e16
23. Hirayama-Yamada K, Kamisago M, Akimoto K et al: Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet A, 2005; 135: 47-52
24. Nemer G, Fadlalah F, Usta J et al: A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot. Hum Mutat, 2006; 27: 293-94
25. Tomita-Mitchell A, Maslen CL, Morris CD et al: GATA4 sequence variants in patients with congenital heart disease. J Med Genet, 2007; 44: 779-83
26. Rajagopal SK, Ma Q, Obler D et al: Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol, 2007; 43: 677-85
27. Posch MG, Perrot A, Schmitt K et al: Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am J Med Genet A, 2008; 146A: 251-53
28. Zhang W, Li X, Shen A et al: GATA4 mutations in 486 Chinese patients with congenital heart disease. Eur J Med Genet, 2008; 51: 527-35
29. Chen MW, Pang YS, Guo Y et al: GATA4 mutations in Chinese patients with congenital cardiac septal defects. Pediatr Cardiol, 2010; 31: 85-89
30. Chen Y, Mao J, Sun Y et al: A novel mutation of GATA4 in a familial atrial septal defect. Clin Chim Acta, 2010; 411: 1741-45
31. Peng T, Wang L, Zhou SF, Li XT: Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. Genetica, 2010; 138: 1231-40
32. Liu XY, Wang J, Zheng JH et al: Involvement of a novel GATA4 mutation in atrial septal defects. Int J Mol Med, 2011; 28: 17-23
33. Wang J, Fang M, Liu XY et al: A novel GATA4 mutation responsible for congenital ventricular septal defects. Int J Mol Med, 2011; 28: 557-64
34. Brewer A, Pizzey J: GATA factors in vertebrate heart development and disease. Expert Rev Mol Med, 2006; 8: 1-20
35. Posch MG, Perrot A, Berger F, Ozcelik C: Molecular genetics of congenital atrial septal defects. Clin Res Cardiol, 2010; 99: 137-47
36. Zhang L, Tumer Z, Jacobsen JR et al: Screening of 99 Danish patients with congenital heart disease for GATA4 mutations. Genet Test, 2006; 10: 277-80
37. Schott JJ, Benson DW, Basson CT et al: Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science, 1998; 281: 108-11
38. Benson DW, Silberbach GM, Kavanaugh-McHugh A et al: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest, 1999; 104: 1567-73
39. Basson CT, Bachinsky DR, Lin RC et al: Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet, 1997; 15: 30-35
40. Li QY, Newbury-Ecob RA, Terrett JA et al: Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet, 1997; 15: 21-29
41. Kirk EP, Sunde M, Costa MW et al: Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am J Hum Genet, 2007; 81: 280-91
42. Liu C, Shen A, Li X, Jiao W, Zhang X, Li Z: T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease. Eur J Med Genet, 2008; 51: 580-87
43. Maitra M, Koenig SN, Srivastava D, Garg V: Identification of GATA6 sequence variants in patients with congenital heart defects. Pediatr Res, 2010; 68: 281-85
44. Lin X, Huo Z, Liu X et al: A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. J Hum Genet, 2010; 55: 662-67
45. Yang SW, Hitz MP, Andelfinger G: Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier. Cardiol Young, 2010; 20: 574-76
46. Granados-Riveron JT, Ghosh TK, Pope M et al: Alpha-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Hum Mol Genet, 2010; 19: 4007-16
47. Pashmforoush M, Lu JT, Chen H et al: Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell, 2004; 117: 373-86
48. Prall OW, Menon MK, Solloway MJ et al: An Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation. Cell, 2007; 128: 947-59
49. Moskowitz IP, Kim JB, Moore ML et al: A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell, 2007; 129: 1365-76
50. Cerbai E, Sartiani L: Holt-oram syndrome and atrial fibrillation: opening the (T)-box. Circ Res, 2008; 102: 1304-6
51. Zhang H, Toyofuku T, Kamei J, Hori M: GATA-4 regulates cardiac morphogenesis through transactivation of the N-cadherin gene. Biochem Biophys Res Commun, 2003; 312: 1033-38
52. Heikinheimo M, Scandrett JM, Wilson DB: Localization of transcription factor GATA-4 to regions of the mouse embryo involved in cardiac development. Dev Biol, 1994; 164: 361-73
53. Kuo CT, Morrisey EE, Anandappa R et al: GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Genes Dev, 1997; 11: 1048-60
54. Molkentin JD, Lin Q, Duncan SA, Olson EN: Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev, 1997; 11: 1061-72