Genetic origins of pediatric heart disease

Pediatric Cardiology

Volumn 31, Issue 3, 2010, Pages 422-429

  Benson, D Woodrow ^a  

^a NONE

Author keywords

Congenital heart disease; Heart block; Pediatric genetics

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5;

CONFERENCE PAPER; CONGENITAL HEART DISEASE; DISEASE MODEL; GENETIC ANALYSIS; HUMAN; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PEDIATRICS;

ANIMALS; DISEASE MODELS, ANIMAL; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HEART BLOCK; HEART DEFECTS, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; MARFAN SYNDROME; MUTATION; PHENOTYPE; RISK FACTORS; T-BOX DOMAIN PROTEINS; TRANSCRIPTION FACTORS;

EID: 77949795729     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00246-009-9607-y     Document Type: Conference Paper

References (52)

1. Benson DW, Sharkey A, Fatkin D, Lang P, Basson CT, Mc-Donough B, Strauss AW, Seidman JG, Seidman CE (1998) Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. Circulation 97:2043-2048.
2. Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, Kugler JD (1999) Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 104:1567-1573.
3. Biben C, Weber R, Kesteven S, Stanley E, McDonald L, Elliott DA, Barnett L, Koentgen F, Robb L, Feneley M, Harvey RP (2000) Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. Circ Res 87:888-895.
4. Bjornstad PG, Leren TP (2009) Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene. Cardiol Young 19:40-44.
5. Bodmer R (1993) The gene tinman is required for specification of the heart and visceral muscles in Drosophila. Development 118:719-729.
6. Borecki IB, Province MA (2008) Genetic and genomic discovery using family studies. Circulation 118:1057-1063.
7. Briggs LE, Takeda M, Cuadra AE, Wakimoto H, Marks MH, Walker AJ, Seki T, Oh SP, Lu JT, Sumners C, Raizada MK, Horikoshi N, Weinberg EO, Yasui K, Ikeda Y, Chien KR, Kasahara H (2008) Perinatal loss of Nkx2-5 results in rapid conduction and contraction defects. Circ Res 103:580-590.
8. Clark KL, Yutzey KE, Benson DW (2006) Transcription factors and congenital heart defects. Annu Rev Physiol 68:97-121.
9. Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW (2004) Bicuspid aortic valve is heritable. J Am Coll Cardiol 44:138-143.
10. Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP (2003) Cardiac homeobox gene NKX2-5 mutations and congenital heart disease. Associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 41:2072-2076.
11. Ferencz C, Rubin JD, Loffredo CA, Magee DA (1993) Epidemiology of congenital heart disease: The Baltimore-Washington Infant Study 1981-1989. In: Anderson RH (ed) Perspectives in pediatric cardiology. Futura Publishing, Mount Kisco, NY.
12. Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Sun W, Wang H, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallee C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Yakub I, Birren BW, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archeveque P, Bellemare G, Saeki K, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature 449:851-861.
13. GeMCRIS (2009) GeMCrIS.
14. Genetests (2009) Genetests.
15. Goldmuntz E, Geiger E, Benson DW (2001) NKX2.5 mutations in patients with tetralogy of fallot. Circulation 104:2565-2568.
16. Gutierrez-Roelens I, Sluysmans T, Gewillig M, Devriendt K, Vikkula M (2002) Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene. Hum Mutat 20:75-76.
17. Gutierrez-Roelens I, De Roy L, Ovaert C, Sluysmans T, Devriendt K, Brunner HG, Vikkula M (2006) A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? Eur J Hum Genet 14:1313-1316.
18. He J, McDermott DA, Song Y, Gilbert F, Kligman I, Basson CT (2004) Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome. Am J Med Genet A 126A:93-98.
19. Hinton RB, Martin LJ, Rame-Gowda S, Tabangin ME, Cripe LH, Benson DW (2009) Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J Am Coll Cardiol 53:1065-1071.
20. Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, Nakamura Y, Tomita H, Furutani M, Imamura S, Takao A, Nakazawa M, Matsuoka R (2005) Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet A 135:47-52.
21. Hoffman JI (1995) Incidence of congenital heart disease: I. Postnatal incidence. Pediatr Cardiol 16:103-113.
22. Hoffman JI (1995) Incidence of congenital heart disease: II. Prenatal incidence. Pediatr Cardiol 16:155-165.
23. Hughes SE, McKenna WJ (2005) New insights into the pathology of inherited cardiomyopathy. Heart 91:257-264.
24. Jay PY, Harris BS, Maguire CT, Buerger A, Wakimoto H, Tanaka M, Kupershmidt S, Roden DM, Schultheiss TM, O'Brien TX, Gourdie RG, Berul CI, Izumo S (2004) Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system. J Clin Invest 113:1130-1137. (Pubitemid 38544098)
25. Johansson A, Marroni F, Hayward C, Franklin CS, Kirichenko AV, Jonasson I, Hicks AA, Vitart V, Isaacs A, Axenovich T, Campbell S, Dunlop MG, Floyd J, Hastie N, Hofman A, Knott S, Kolcic I, Pichler I, Polasek O, Rivadeneira F, Tenesa A, Uitterlinden AG, Wild SH, Zorkoltseva IV, Meitinger T, Wilson JF, Rudan I, Campbell H, Pattaro C, Pramstaller P, Oostra BA, Wright AF, van Duijn CM, Aulchenko YS, Gyllensten U (2009) Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum Mol Genet 18:373-380.
26. Kasahara H, Lee B, Schott JJ, Benson DW, Seidman JG, Seidman CE, Izumo S (2000) Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. J Clin Invest 106:299-308.
27. Kasahara H, Benson DW (2004) Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. Cardiovasc Res 64:40-51.
28. Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tuzun E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE (2008) Mapping and sequencing of structural variation from eight human genomes. Nature 453:56-64.
29. Kim Y, Nirenberg M (1989) Drosophila NK-homeobox genes. Proc Natl Acad Sci USA 86:7716-7720.
30. Komuro I, Izumo S (1993) Csx: a murine homeobox-containing gene specifically expressed in the developing heart. Proc Natl Acad Sci USA 90:8145-8149.
31. Konig K, Will JC, Berger F, Muller D, Benson DW (2006) Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation. Clin Res Cardiol 95:499-503.
32. Lehnart SE, Ackerman MJ, Benson DW Jr, Brugada R, Clancy CE, Donahue JK, George AL Jr, Grant AO, Groft SC, January CT, Lathrop DA, Lederer WJ, Makielski JC, Mohler PJ, Moss A, Nerbonne JM, Olson TM, Przywara DA, Towbin JA, Wang LH, Marks AR (2007) Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function. Circulation 116:2325-2345.
33. Lints TJ, Parsons LM, Hartley L, Lyons I, Harvey RP (1993) Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants. Development 119:419-431.
34. Lyons I, Parsons LM, Hartley L, Li R, Andrews JE, Robb L, Harvey RP (1995) Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5. Genes Dev 9:1654-1666.
35. McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E (2003) NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 42:1650-1655.
36. McKeown T, Macmahon B, Parsons CG (1953) The familial incidence of congenital malformation of the heart. Br Heart J 15:273-277.
37. Nora JJ (1968) Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction. Circulation 38:604-617.
38. Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ, Horton SC, Rodeheffer RJ, Anderson JL (2005) Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 293:447-454.
39. OMIM (2009) Online Mendelian Inheritance in Man.
40. Pabst S, Wollnik B, Rohmann E, Hintz Y, Glanzer K, Vetter H, Nickenig G, Grohe C (2008) A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease. Clin Res Cardiol 97:39-42.
41. Page GP, George V, Go RC, Page PZ, Allison DB (2003) "Are we there yet?": deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits. Am J Hum Genet 73:711-719.
42. Pashmforoush M, Lu JT, Chen H, Amand TS, Kondo R, Pradervand S, Evans SM, Clark B, Feramisco JR, Giles W, Ho SY, Benson DW, Silberbach M, Shou W, Chien KR (2004) Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell 117:373-386.
43. Pierpont ME, Basson CT, Benson DW Jr, Gelb BD, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D, Webb CL (2007) 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 115:3015-3038.
44. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME (2006) Global variation in copy number in the human genome. Nature 444:444-454. (Pubitemid 44809057)
45. Rifai L, Maazouzi W, Sefiani A (2007) Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa. Cardiol Young 17:107-109.
46. Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281:108-111.
47. Shiojima I, Komuro I, Mizuno T, Aikawa R, Akazawa H, Oka T, Yamazaki T, Yazaki Y (1996) Molecular cloning and characterization of human cardiac homeobox gene CSX1. Circ Res 79:920-929.
48. Spits C, De Rycke M, Verpoest W, Lissens W, Van Steirteghem A, Liebaers I, Sermon K (2006) Preimplantation genetic diagnosis for Marfan syndrome. Fertil Steril 86:310-320. (Pubitemid 44118949)
49. Takeda M, Briggs LE, Wakimoto H, Marks MH, Warren SA, Lu JT, Weinberg EO, Robertson KD, Chien KR, Kasahara H (2009) Slow progressive conduction and contraction defects in loss of Nkx2-5 mice after cardiomyocyte terminal differentiation. Lab Invest 89:983-993.
50. Tanaka M, Chen Z, Bartunkova S, Yamasaki N, Izumo S (1999) The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. Development 126:1269-1280.
51. Tanaka M, Wechsler SB, Lee IW, Yamasaki N, Lawitts JA, Izumo S (1999) Complex modular cis-acting elements regulate expression of the cardiac specifying homeobox gene Csx/Nkx2.5. Development 126:1439-1450.
52. Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC (2002) Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. J Med Genet 39:807-811.