GATA4 mutations in 486 Chinese patients with congenital heart disease

European Journal of Medical Genetics

Volumn 51, Issue 6, 2008, Pages 527-535

  Zhang, Weimin ^a   Li, Xiaofeng ^a   Shen, Adong ^a   Jiao, Weiwei ^a   Guan, Xiaolei ^a   Li, Zhongzhi ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Congenital heart disease; GATA4; Mutation; Transcription factor

Indexed keywords

TRANSCRIPTION FACTOR GATA 4;

ARTICLE; CHILD; CHINESE; COMPARATIVE STUDY; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FALLOT TETRALOGY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PREVALENCE;

BASE SEQUENCE; CHINA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA PRIMERS; FEMALE; GATA4 TRANSCRIPTION FACTOR; GERM-LINE MUTATION; HEART DEFECTS, CONGENITAL; HUMANS; INTRONS; MALE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 56649112929     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.06.005     Document Type: Article

References (27)

1. Hoffman J.I., and Kaplan S. The incidence of congenital heart disease. J. Am. Coll. Cardiol. 39 (2002) 1890-1900
2. Rosamond W., Flegal K., Friday G., Furie K., Go A., Greenlund K., Haase N., Ho M., Howard V., Kissela B., Kittner S., Lloyd-Jones D., McDermott M., Meigs J., Moy C., Nichol G., O'Donnell C.J., Roger V., Rumsfeld J., Sorlie P., Steinberger J., Thom T., Wasserthiel-Smoller S., and Hong Y. Heart disease and stroke statistics - 2007 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Circulation 115 (2007) e69-e171
3. Garg V., Kathiriya I.S., Barnes R., Schluterman M.K., King I.N., Butler C.A., Rothrock C.R., Eapen R.S., Hirayama-Yamada K., Joo K., Matsuoka R., Cohen J.C., and Srivastava D. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424 (2003) 443-447
4. Okubo A., Miyoshi O., Baba K., Takagi M., Tsukamoto K., Kinoshita A., Yoshiura K., Kishino T., Ohta T., Niikawa N., and Matsumoto N. A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J. Med. Genet. 41 (2004) e97
5. Sarkozy A., Conti E., Neri C., D'Agostino R., Digilio M.C., Esposito G., Toscano A., Marino B., Pizzuti A., and Dallapiccola B. Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J. Med. Genet. 42 (2005) e16
6. Hirayama-Yamada K., Kamisago M., Akimoto K., Aotsuka H., Nakamura Y., Tomita H., Furutani M., Imamura S., Takao A., Nakazawa M., and Matsuoka R. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am. J. Med. Genet. A 135 (2005) 47-52
7. Nemer G., Fadlalah F., Usta J., Nemer M., Dbaibo G., Obeid M., and Bitar F. A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot. Hum. Mutat. 27 (2006) 293-294
8. Tang Z.H., Xia L., Chang W., Li H., Shen F., Liu J.Y., Wang Q., and Liu M.G. Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23 (2006) 134-137
9. Rajagopal S.K., Ma Q., Obler D., Shen J., Manichaikul A., Tomita-Mitchell A., Boardman K., Briggs C., Garg V., Srivastava D., Goldmuntz E., Broman K.W., Woodrow Benson D., Smoot L.B., and Pu W.T. Spectrum of heart disease associated with murine and human GATA4 mutation. J. Mol. Cell. Cardiol. 43 (2007) 677-685
10. Tomita-Mitchell A., Maslen C.L., Morris C.D., Garg V., and Goldmuntz E. GATA4 sequence variants in patients with congenital heart disease. J. Med. Genet. 44 (2007) 779-783
11. Posch M.G., Perrot A., Schmitt K., Mittelhaus S., Esenwein E.M., Stiller B., Geier C., Dietz R., Gessner R., Ozcelik C., and Berger F. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am. J. Med. Genet. A 146 (2008) 251-253
12. Crispino J.D., Lodish M.B., Thurberg B.L., Litovsky S.H., Collins T., Molkentin J.D., and Orkin S.H. Proper coronary vascular development and heart morphogenesis depend on interaction of GATA4 with FOG cofactors. Genes Dev. 15 (2001) 839-844
13. Durocher D., Charron F., Warren R., Schwartz R.J., and Nemer M. The cardiac transcription factors Nkx2.5 and GATA4 are mutual cofactors. EMBO J. 16 (1997) 5687-5696
14. McFadden D.G., Charite J., Richardson J.A., Srivastava D., Firulli A.B., and Olson E.N. A GATA-dependent right ventricular enhancer controls dHAND transcription in the developing heart. Development 127 24 (2000) 5331-5341
15. Lee Y., Shioi T., Kasahara H., Jobe S.M., Wiese R.J., Markham B.E., and Izumo S. The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression. Mol. Cell. Biol. 18 (1998) 3120-3129
16. Molkentin J.D., Lu J.R., Antos C.L., Markham B., Richardson J., Robbins J., Grant S.R., and Olson E.N. A calcineurin-dependent transcriptional pathway for cardiac hypertrophy. Cell 93 (1998) 215-228
17. Morin S., Charron F., Robitaille L., and Nemer M. GATA-dependent recruitment of MEF2 proteins to target promoters. EMBO J. 19 (2000) 2046-2055
18. Shiojima I., Komuro I., Oka T., Hiroi Y., Mizuno T., Takimoto E., Monzen K., Aikawa R., Akazawa H., Yamazaki T., Kudoh S., and Yazaki Y. Context-dependent transcriptional cooperation mediated by cardiac transcription factors Csx/Nkx2.5 and GATA4. J. Biol. Chem. 274 (1999) 8231-8239
19. Ghatpande S., Ghatpande A., Zile M., and Evans T. Anterior endoderm is sufficient to rescue foregut apoptosis and heart tube morphogenesis in an embryo lacking retinoic acid. Dev. Biol. 219 (2000) 59-70
20. Holtzinger A., and Evans T. GATA4 regulates the formation of multiple organs. Development 132 (2005) 4005-4014
21. Kuo C.T., Morrisey E.E., Anandappa R., Sigrist K., Lu M.M., Parmacek M.S., Soudais C., and Leiden J.M. GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Genes Dev. 11 (1997) 1048-1060
22. Molkentin J.D. The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression. J. Biol. Chem. 275 (2000) 38949-38952
23. Molkentin J.D., Lin Q., Duncan S.A., and Olson E.N. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev. 11 (1997) 1061-1072
24. Peterkin T., Gibson A., Loose M., and Patient R. The roles of GATA-4, -5 and -6 in vertebrate heart development. Semin. Cell. Dev. Biol. 16 (2005) 83-94
25. Pikkarainen S., Tokola H., Kerkela R., and Ruskoaho H. GATA transcription factors in the developing and adult heart. Cardiovasc. Res. 63 (2004) 196-207
26. Cartegni L., Chew S.L., and Krainer A.R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 3 (2002) 285-298
27. Komar A.A. Genetics. SNPs, silent but not invisible. Science 315 (2007) 466-467