A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death

Clinica Chimica Acta

Volumn 412, Issue 1-2, 2011, Pages 170-175

  Ouyang, Ping ^a   Saarel, Elizabeth ^b   Bai, Ying ^a   Luo, Chunyan ^a   Lv, Qiulun ^a   Xu, Yan ^a   Wang, Fan ^a   Fan, Chun ^b   Younoszai, Adel ^b   Chen, Qiuyun ^b   Tu, Xin ^a   Wang, Qing K ^a,b  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Atrial septal defect (ASD); Mutation; Sudden death; Syncope; Transcriptional factor NKX2.5; Ventricular noncompaction

Indexed keywords

LUCIFERASE; TRANSCRIPTION FACTOR NKX2.5;

ARTICLE; ATRIOVENTRICULAR BLOCK; CHINESE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ASSAY; EXON; FEMALE; FUNCTIONAL GENOMICS; GENE ACTIVITY; GENE INSERTION; GENE LOCATION; GENE LOSS; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC SCREENING; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RARE DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; SUDDEN DEATH; SYNCOPE; TRANSACTIVATION; TRANSCRIPTION INITIATION;

ADULT; BASE SEQUENCE; DEATH, SUDDEN; DNA MUTATIONAL ANALYSIS; FEMALE; HEART SEPTAL DEFECTS, ATRIAL; HELA CELLS; HOMEODOMAIN PROTEINS; HUMANS; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MALE; MODELS, MOLECULAR; MUTATION; NUCLEIC ACID CONFORMATION; SYNCOPE; TRANSCRIPTION FACTORS;

SYNCOPE;

EID: 78650511336     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.09.035     Document Type: Article

References (34)

1. Pabst S., Wollnik B., Rohmann E., et al. A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease. Clin Res Cardiol 2008, 97:39-42.
2. Elliott D.A., Kirk E.P., Yeoh T., Chandar S. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease. JACC 2003, 41:2072-2075.
3. Hirayama-Yamada K., Kamisago M. Kaoru Akimoto: phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet 2005, 135A:47-52.
4. Ching Y.-H., Ghosh T.K., Cross S.J., Packham E.A. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet 2005, 37:423-428.
5. Kirk E.P., Sunde M., Costa M.W., Rankin S.A., Wolstein O. 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, 81:280-291.
6. Matsson H., Eason J., Bookwalter C.S., Klar J., Gustavsson P. Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet 2008, 17:256-265.
7. Stanczak P., Witecka J., Szydlo A., Gutmajster E., Lisik M. Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. Eur J Med Genet 2009, 17:344-351.
8. Bruneau B.G., Nemer G., Schmitt J.P. A murine model of Holt-Oram syndrome defines roles of the T-Box transcription factor Tbx5 in cardiogenesis and disease. Cell 2001, 106:709-721.
9. Fan C., Liu M., Wang Q. Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. J Biol Chem 2003, 278:8780-8785.
10. Toko H., Zhu W., Takimoto E. Csx/Nkx2-5 is required for homeostasis and survival of cardiac myocytes in the adult heart. J Biol Chem 2002, 277:24735-24743.
11. Prall O.W., Menon M.K., Solloway M.J. An Nkx2-5/Bmp2/Smad1 negative feedback loop controls second heart field progenitor specification and proliferation. Cell 2007, 128:947-959.
12. Joziasse I.C., van de Smagt J.J., Smith K., Bakkers J., Sieswerda G.J. Genes in congenital heart disease: atrioventricular valve formation. Basic Res Cardiol 2008.
13. Riazi A.M., Takeuchi J.K., Hornberger L.K. NKX2-5 regulates the expression of b-Catenin and GATA4 in ventricular myocytes. PLoS ONE 2009, 4:e5698.
14. Tu C.-T., Yang T.-C., Tsai H.-J. Nkx2.7 and Nkx2.5 function redundantly and are required for cardiac morphogenesis of zebrafish embryos. PLoS ONE 2009, 4:e4249.
15. Ueyama T., Kasahara H., Ishiwata T. Myocardin expression is regulated by Nkx2.5, and its function is required for cardiomyogenesis. Mol Cell Biol 2003, 23:9222-9232.
16. Kasahara H., Usheva A., Ueyama T. Characterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoprotein. J Biol Chem 2001, 276:4570-4580.
17. Lee Y., Shioi T., Kasahara H. 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 1998, 18:3120-3129.
18. Hiroi Y., Kudoh S., Monzen K. Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat Genet 2001, 28:276-280.
19. Watada H., Mirmira R.G., Kalamaras J. Intramolecular control of transcriptional activity by the NK2-specific domain in NK-2 homeodomain proteins. PNAS 2000, 97:9443-9448.
20. Bartlett H., Veenstra G.J.C., Weeks D.L. Examining the cardiac NK-2 genes in early heart development. Pediatr Cardiol 2010, 31:335-341.
21. Stallmeyer B., Fenge H., Nowak-Göttl U. Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Clin Genet 2010.
22. Goldmuntz E., Geiger E., Benson D.W. NKX2.5 mutations in patients with tetralogy of fallot. Circulation 2001, 104:2565-2568.
23. Woodrow Benson D., Michael Silberbach G. Ann Kavanaugh-McHugh: mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 1999, 104:1567-1573.
24. Xu J., Zeng J.Q. Gang Wan: construction of siRNA/miRNA expression vectors based on a one-step PCR process. BMC Biotechnol 2009, 9:53.
25. Fan C., Chen Q., Wang Q. Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35. J Biol Chem 2009, 284:25653-25663.
26. Zambrano E., Marshalko S.J., Jaffe C.C. Hui1 P: isolated noncompaction of the ventricular myocardium: clinical and molecular aspects of a rare cardiomyopathy. Lab Invest 2002, 82:117-122.
27. Pashmforoush M., Lu J.T., Chen H., Amand T.S., Kondo R. Nkx2-5 pathways and congenital heart disease. Cell 2004, 117:373-386.
28. Hoedemaekers Y.M., Caliskan K., Michels M., et al. The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circ Cardiovasc Gene 2010, 3(3):232-U243.
29. Schott J.-J., Benson D.W., Basson C.T. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998, 281:108-111.
30. Posch Maximilian G., Perrot Andreas, Schmitt K. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am J Med Genet Part A 2008, 146A:251-253.
31. Esposito Giorgia, Grutter Giorgia, Drago Fabrizio, et al. Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection. Am J Med Genet A 2009, 149A:1574-1577.
32. Wei-min Z., Xiao-feng L., Zhong-yuan M. GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease. Chin Med J Eng 2009, 122:416-419.
33. Zhang W., Li X., Shen A. Screening NXK2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases. Genet Test Mol Biomark 2009, 13:159-162.
34. Gioli-Pereira L., Pereira A.C., Mesquita S.M. NKX2.5 mutations in patients with non-syndromic congenital heart disease. Int J Cardiol 2010, 138:261-265.