Complex genetics and the etiology of human congenital heart disease

Cold Spring Harbor Perspectives in Medicine

Volumn 4, Issue 7, 2014, Pages

  Gelb, Bruce D ^a   Chung, Wendy K ^b  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b Department of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MICRORNA; SPACER DNA; TRANSCRIPTION FACTOR GATA 5; TRANSCRIPTION FACTOR NKX2.5;

ARTICLE; ATRIOVENTRICULAR BLOCK; ATRIOVENTRICULAR SEPTAL DEFECT; CONGENITAL HEART DISEASE; COPY NUMBER VARIATION; DE NOVO MUTATION; ENHANCER REGION; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETICS; GENOMICS; HAPLOINSUFFICIENCY; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; MODIFIER GENE; NONHUMAN; POINT MUTATION; PROMOTER REGION; REGULATOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM; CONGENITAL HEART MALFORMATION; MUTATION;

DNA COPY NUMBER VARIATIONS; GENES, MODIFIER; GENOME-WIDE ASSOCIATION STUDY; HEART DEFECTS, CONGENITAL; HUMANS; MUTATION;

EID: 84922475240     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a013953     Document Type: Article

References (37)

1. Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, Mooney S, Bean LJ, Dooley KJ, Cua CL, et al. 2012. An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioven-tricular septal defects. Am J Hum Genet 91: 646-659.
2. Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, et al. 2013a. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet 45: 822-824.
3. Cordell HJ, Topf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Granados Riv-eron J, et al. 2013b. Genome-wide association studyiden-tifies loci on 12q24and 13q32 associated with tetralogy of Fallot. Hum Mol Genet 22: 1473-1481.
4. Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW. 2004. Bicuspid aortic valve is heritable. JAm Coll Cardiol 44: 138-143.
5. Dunham I, Kundaje A, Aldred SF, Collins PJ, Davis CA, Doyle F, Epstein CB, Frietze S, Harrow J, Kaul R, et al. 2012. An integrated encyclopedia of DNA elements in the human genome. Nature 489: 57-74.
6. Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. 2011. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci 108: 2915-2920.
7. Friedland-Little JM, Hoffmann AD, Ocbina PJ, Peterson MA, Bosman JD, Chen Y, Cheng SY, Anderson KV, Mos-kowitz IP. 2011. A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus. Hum Mol Genet 20: 3725-3737.
8. Gelb B, Brueckner M, Chung W, Goldmuntz E, Kaltman J, Kaski JP, Kim R, Kline J, Mercer-Rosa L, Porter G, et al. 2013. The Congenital Heart Disease Genetic Network Study: Rationale, design, and early results. Circ Res 112:698-706.
9. Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, et al. 1998. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32:492-498.
10. Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, et al. 2009. De novo copy number variants identify new genes and loci in isolated sporadic tetralogyofFallot. Nat Genet 41: 931-935.
11. Hinton RB Jr, Martin LJ, Tabangin ME, Mazwi ML, Cripe LH, Benson DW. 2007. Hypoplastic left heart syndrome is heritable. JAm Coll Cardiol 50: 1590-1595.
12. Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, et al. 2012. Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet 8: e1002903.
13. Hu Z, Shi Y, Mo X, Xu J, Zhao B, Lin Y, Yang S, Xu Z, Dai J, Pan S, et al. 2013. Agenome-wide association studyiden-tifies two risk loci for congenital heart malformations in Han Chinese populations. Nat Genet 45: 818-821.
14. Kamp A, Peterson MA, Svenson KL, Bjork BC, Hentges KE, Rajapaksha TW, Moran J, Justice MJ, Seidman JG, Seid-man CE, et al. 2010. Genome-wide identification of mouse congenital heart disease loci. Hum Mol Genet 19: 3105-3113.
15. Kozel BA, Knutsen RH, Ye L, Ciliberto CH, Broekelmann TJ, Mecham RP. 2011. Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation. J Biol Chem 286: 44926-44936.
16. McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Lam W, Leal SM, Kaplan N, Schliekelman P, et al. 2005. Inheritance analysis ofcongenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. Am J Med Genet A 134A: 180-186.
17. Nabulsi MM, Tamim H, Sabbagh M, Obeid MY, Yunis KA, Bitar FF. 2003. Parental consanguinity and congenital heart malformations in a developing country. Am J Med Genet A 116A: 342-347.
18. Nora JJ. 1968. Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction. Circulation 38: 604-617.
19. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, et al. 2012. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338:1619-1622.
20. Oyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PK, Melbye M. 2009. Recurrence of congenital heart defects in families. Circulation 120: 295-301.
21. Payne AR, Chang SW, Koenig SN, Zinn AR, Garg V. 2012. Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome. Pediatr Cardiol 33: 757-763.
22. Pradat P, Francannet C, Harris JA, Robert E. 2003. The epidemiology of cardiovascular defects: Part I. A study based on data from three large registries of congenital malformations. Pediatr Cardiol 24: 195-221.
23. Priest JR, Girirajan S, Vu TH, Olson A, Eichler EE, Portman MA. 2012. Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects. Am J Med Genet A 158A: 1279-1284.
24. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, et al. 2006. Global variation in copy number in the human genome. Nature 444: 444-454.
25. Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, et al. 2012. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet 8: e1002843.
26. Smemo S, Campos LC, Moskowitz IP, Krieger JE, Pereira AC, Nobrega MA. 2012. Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. Hum Mol Genet 21: 3255-3263.
27. Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, et al. 2012a.Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet 21: 1513-1520.
28. Soemedi R, Wilson IJ, Bentham J, Darlay R, Topf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, et al. 2012b. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet 91: 489-501.
29. Sung RY, So LY, Ng HK, Ho JK, Fok TF. 1991. Echocardiog-raphy as a tool for determining the incidence of congenital heart disease in newborn babies: A pilot study in Hong Kong. Int J Cardiol 30: 43-47.
30. Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K. 2007. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 28: 2778-2784.
31. Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, et al. 2012. Human gene copy number spectra analysis in congenital heart malformations. Physiol Genomics 44: 518-541.
32. Whittemore R, Hobbins JC, Engle MA. 1982. Pregnancyand its outcome in women with and without surgical treatment of congenital heart disease. Am JCardiol 50: 641-651.
33. Winston JB, Erlich JM, Green CA, Aluko A, Kaiser KA, Takematsu M, Barlow RS, Sureka AO, LaPage MJ, Janss LL, et al. 2010. Heterogeneity of genetic modifiers ensures normal cardiac development. Circulation 121: 1313-1321.
34. Winston JB, Schulkey CE, Chen IB, Regmi SD, Efimova M, Erlich JM, Green CA, Aluko A, Jay PY. 2012. Complex trait analysis of ventricular septal defects caused by Nkx2-5 mutation. Circ Cardiovasc Genet 5: 293-300.
35. Wu MH, Chen HC, Lu CW, Wang JK, Huang SC, Huang SK. 2010. Prevalence of congenital heart disease at live birth in Taiwan. JPediatr 156: 782-785.
36. Yunis K, Mumtaz G, Bitar F, Chamseddine F, Kassar M, Rashkidi J, Makhoul G, Tamim H. 2006. Consanguineous marriage and congenital heart defects: Acase-control study in the neonatal period. Am J Med Genet A 140:1524-1530.
37. Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, et al. 2013. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498: 220-223.