Fresh fields and pathways new: Recent genetic insights into cardiac malformation

Heart

Volumn 95, Issue 6, 2009, Pages 442-447

  Leong, F T ^a   Freeman, L J ^b   Keavney, B D ^c  

^a PAPWORTH HOSPITAL   (United Kingdom)

^b NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR TBX5;

CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; GENE DELETION; GENE MUTATION; GENETIC CODE; HEART DEVELOPMENT; HOLT ORAM SYNDROME; HUMAN; NONHUMAN; PRIORITY JOURNAL; REVIEW;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; SYNDROME; T-BOX DOMAIN PROTEINS; TRANSCRIPTION FACTORS;

EID: 61949162430     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/hrt.2006.105130     Document Type: Review

References (30)

1. Report of the British Cardiac Society Working Party. Grown-up congenital heart (GUCH) disease: current needs and provision of service for adolescents and adults with congenital heart disease in the UK. Heart 2002;88(suppl 1):i1-14.
2. Burn J, Goodship J. Congenital heart disease. In: Rimoin DL, Connor JM, Pyeritz RE, et al, eds. Emery and Rimoin's principles and practice of medical genetics. Philadelphia: Churchill Livingstone Elsevier, 2007:1083-159.
3. Pierpont ME, Basson CT, Benson DW Jr, et al. 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.
4. Burn J, Brennan P, Little J, et al. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet 1998;351:311-6.
5. Olson EN. Gene regulatory networks in the evolution and development of the heart. Science 2006;313:1922-7.
6. Buckingham M, Meilhac S, Zaffran S. Building the mammalian heart from two sources of myocardial cells. Nat Rev Genet 2005;6:826-35.
7. Srivastava D. Making or breaking the heart: from lineage determination to morphogenesis. Cell 2006;126:1037-48.
8. Laugwitz KL, Moretti A, Caron L, et al. Islet1 cardiovascular progenitors: a single source for heart lineages? Development 2008;135:193-205.
9. Moretti A, Caron L, Nakano A, et al. Multipotent embryonic isl1+ progenitor cells lead to cardiac, smooth muscle, and endothelial cell diversification. Cell 2006;127:1151-65.
10. Hobbs CA, Cleves MA, Keith C, et al. NKX2.5 and congenital heart defects: a population-based study. Am J Med Genet A 2005;134:223-5.
11. 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.
12. Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A 2005;138:307-13.
13. Cohen E, Chow EW, Weksberg R, et al. Phenotype of adults with the 22q11 deletion syndrome: a review. Am J Med Genet 1999;86:359-65.
14. Yagi H, Furutani Y, Hamada H, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 2003;362:1366-73.
15. Paylor R, Glaser B, Mupo A, et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci USA 2006;103:7729-34.
16. Zweier C, Sticht H, Aydin-Yaylagul I, et al. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet 2007;80:510-7.
17. Schott J-J, Benson DW, Basson CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998;281:108-11.
18. Elliott DA, Kirk EP, Yeoh T, et al. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 2003;41:2072-6.
19. McElhinney DB, Geiger E, Blinder J, et al. NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 2003;42:1650-5.
20. Mittmann C. Molecular basis of AV block and cardiac malformations. Cardiovasc Res 2004;64:1-2.
21. Benson DW, Silberbach GM, Kavanaugh-McHugh A, et al. Mutations in Nkx2-5, a cardiac transcription factor, affect diverse cardiac developmental pathways. J Clin Invest 1999;104:1567-73.
22. Reamon-Buettner SM, Hecker H, Spanel-Borowski K, et al. Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations. Am J Pathol 2004;164:2117-25.
23. Newbury-Ecob RA, Leanage R, Raeburn JA, et al. Holt-Oram syndrome: a clinical genetic study. J Med Genet 1996;33:300-7.
24. McDermott DA, Bressan MC, He J, et al. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res 2005;58:981-6.
25. Basson CT, Bachinsky DR, Lin RC, et al. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 1997;15:30-5.
26. 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;15:21-9.
27. Heinritz W, Shou L, Moschik A, et al. The human TBX5 gene mutation database. Hum Mutat 2005;26:397.
28. Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, et al. Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat 2006;27:975-6.
29. Verkleij-Hagoort A, Bliek J, Sayed-Tabatabaei F, et al. Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. Am J Med Genet A 2007;143:952-60.
30. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-78.