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BioMed Research International
Volume 2015, Article ID 401941, 12 pages
http://dx.doi.org/10.1155/2015/401941
Research Article

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects

1Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), 91501-970 Porto Alegre, RS, Brazil
2Institute of Cardiology, University Foundation of Cardiology, Avenida Princesa Isabel 297, 90620-000 Porto Alegre, RS, Brazil
3Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil

Received 1 March 2015; Revised 1 May 2015; Accepted 3 May 2015

Academic Editor: Jing Zhang

Copyright © 2015 Karen Regina de Souza et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. D. Reller, M. J. Strickland, T. Riehle-Colarusso, W. T. Mahle, and A. Correa, “Prevalence of congenital heart defects in metropolitan Atlanta 1998–2005,” Journal of Pediatrics, vol. 153, no. 6, pp. 807–813, 2008. View at Publisher · View at Google Scholar · View at Scopus
  2. L. F. P. Amorim, C. A. B. Pires, A. M. A. Lana et al., “Presentation of congenital heart disease diagnosed at birth: analysis of 29,770 newborn infants,” Jornal de Pediatria, vol. 84, no. 1, pp. 83–90, 2008. View at Publisher · View at Google Scholar · View at Scopus
  3. J. J. Lee and D.-S. Kang, “Feasibility of electron beam tomography in diagnosis of congenital heart disease: comparison with echocardiography,” European Journal of Radiology, vol. 38, no. 3, pp. 185–190, 2001. View at Publisher · View at Google Scholar · View at Scopus
  4. A. Miller, T. Riehle-Colarusso, C. J. Alverson, J. L. Frías, and A. Correa, “Congenital heart defects and major structural noncardiac anomalies, Atlanta, Georgia, 1968 to 2005,” Journal of Pediatrics, vol. 159, no. 1, pp. 70.e2–78.e2, 2011. View at Publisher · View at Google Scholar · View at Scopus
  5. C. Ferencz, J. D. Rubin, R. J. McCarter et al., “Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study,” American Journal of Epidemiology, vol. 121, no. 1, pp. 31–36, 1985. View at Google Scholar · View at Scopus
  6. C. D. O'Malley, G. M. Shaw, C. R. Wasserman, and E. J. Lammer, “Epidemiologic characteristics of conotruncal heart defects in California, 1987–1988,” Teratology, vol. 53, no. 6, pp. 374–377, 1996. View at Google Scholar · View at Scopus
  7. J. I. E. Hoffman and S. Kaplan, “The incidence of congenital heart disease,” Journal of the American College of Cardiology, vol. 39, no. 12, pp. 1890–1900, 2002. View at Publisher · View at Google Scholar · View at Scopus
  8. British Heart Foundation Statistics Database, https://www.bhf.org.uk/research/heart-statistics/.
  9. A. K. Ryan, J. A. Goodship, D. I. Wilson et al., “Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study,” Journal of Medical Genetics, vol. 34, no. 10, pp. 798–804, 1997. View at Publisher · View at Google Scholar · View at Scopus
  10. S. B. Freeman, L. F. Taft, K. J. Dooley et al., “Population-based study of congenital heart defects in Down syndrome,” The American Journal of Medical Genetics, vol. 80, no. 3, pp. 213–217, 1998. View at Google Scholar · View at Scopus
  11. A. Wessel, R. Pankau, D. Kececioglu, W. Ruschewski, and J. H. Bursch, “Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome,” The American Journal of Medical Genetics, vol. 52, no. 3, pp. 297–301, 1994. View at Publisher · View at Google Scholar · View at Scopus
  12. J. A. Harris, C. Francannet, P. Pradat, and E. Robert, “The epidemiology of cardiovascular defects, Part 2: a study based on data from three large registries of congenital malformations,” Pediatric Cardiology, vol. 24, no. 3, pp. 222–235, 2003. View at Publisher · View at Google Scholar · View at Scopus
  13. P. Pradat, C. Francannet, J. A. Harris, and E. Robert, “The epidemiology of cardiovascular defects. Part I. A study based on data from three large registries of congenital malformations,” Pediatric Cardiology, vol. 24, no. 3, pp. 195–221, 2003. View at Publisher · View at Google Scholar · View at Scopus
  14. K. J. Jenkins, A. Correa, J. A. Feinstein et al., “Noninherited risk factors and congenital cardiovascular defects: current knowledge—a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics,” Circulation, vol. 115, no. 23, pp. 2995–3014, 2007. View at Publisher · View at Google Scholar · View at Scopus
  15. E. J. Lammer, J. S. Chak, D. M. Iovannisci et al., “Chromosomal abnormalities among children born with conotruncal cardiac defects,” Birth Defects Research Part A: Clinical and Molecular Teratology, vol. 85, no. 1, pp. 30–35, 2009. View at Publisher · View at Google Scholar · View at Scopus
  16. S. E. Harris, C. Cronk, L. D. Cassidy, P. Simpson, A. Tomita-Mitchell, and A. N. Pelech, “Exploring the environmental and genetic etiologies of congenital heart defects: the Wisconsin Pediatric Cardiac Registry,” Journal of Registry Management, vol. 38, no. 1, pp. 24–29, 2011. View at Google Scholar · View at Scopus
  17. D. C. Bittel, S. Yu, H. Newkirk et al., “Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH,” Cytogenetic and Genome Research, vol. 124, no. 2, pp. 113–120, 2009. View at Publisher · View at Google Scholar · View at Scopus
  18. R. Barriot, J. Breckpot, B. Thienpont et al., “Collaboratively charting the gene-to-phenotype network of human congenital heart defects,” Genome Medicine, vol. 2, no. 3, p. 16, 2010. View at Publisher · View at Google Scholar · View at Scopus
  19. R. Soemedi, A. Topf, I. J. Wilson et al., “Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls,” Human Molecular Genetics, vol. 21, no. 7, pp. 1513–1520, 2012. View at Publisher · View at Google Scholar · View at Scopus
  20. W.-W. Cai, J.-H. Mao, C.-W. Chow, S. Damani, A. Balmain, and A. Bradley, “Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays,” Nature Biotechnology, vol. 20, no. 4, pp. 393–396, 2002. View at Publisher · View at Google Scholar · View at Scopus
  21. D. G. Albertson and D. Pinkel, “Genomic microarrays in human genetic disease and cancer,” Human Molecular Genetics, vol. 12, supplement 2, pp. R145–R152, 2003. View at Publisher · View at Google Scholar · View at Scopus
  22. R. Hochstenbach, J. E. Buizer-Voskamp, J. A. S. Vorstman, and R. A. Ophoff, “Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research,” Cytogenetic and Genome Research, vol. 135, no. 3-4, pp. 174–202, 2011. View at Publisher · View at Google Scholar · View at Scopus
  23. F. Erdogan, L. A. Larsen, L. Zhang et al., “High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease,” Journal of Medical Genetics, vol. 45, no. 11, pp. 704–709, 2008. View at Publisher · View at Google Scholar · View at Scopus
  24. J. Breckpot, B. Thienpont, H. Peeters et al., “Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects,” Journal of Pediatrics, vol. 156, no. 5, pp. 810–817, 2010. View at Publisher · View at Google Scholar · View at Scopus
  25. K. Osoegawa, D. M. Iovannisci, B. Lin et al., “Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects,” The American Journal of Medical Genetics. Part A, vol. 164, no. 2, pp. 397–406, 2014. View at Publisher · View at Google Scholar · View at Scopus
  26. K. Osoegawa, K. Schultz, K. Yun et al., “Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries,” Molecular Genetics & Genome Medicine, vol. 2, no. 4, pp. 341–351, 2014. View at Google Scholar
  27. J. Huber, V. C. Peres, A. L. de Castro et al., “Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease,” Pediatric Cardiology, vol. 35, no. 8, pp. 1356–1362, 2014. View at Publisher · View at Google Scholar · View at Scopus
  28. S. F. Vervoordeldonk, K. Doumaid, E. B. M. Remmerswaal et al., “Long-term detection of microchimaerism in peripheral blood after pretransplantation blood transfusion,” British Journal of Haematology, vol. 102, no. 4, pp. 1004–1009, 1998. View at Publisher · View at Google Scholar · View at Scopus
  29. M. S. Fernandes, P. Ashton-Prolla, U. Matte et al., “The Hospital de Clinicas de Porto Alegre normative for the storage and use of human biological materials and their associated information in research: an interdisciplinary approach,” Revista HCPA, vol. 30, pp. 169–179, 2010. View at Google Scholar
  30. J. R. Vermeesch, C. Melotte, G. Froyen et al., “Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis,” Journal of Histochemistry & Cytochemistry, vol. 53, no. 3, pp. 413–422, 2005. View at Publisher · View at Google Scholar · View at Scopus
  31. M. Schinzel, A. Riegel, and A. Baumer, “Microdeletion syndromes,” in Nature Encyclopedia of the Human Genome, pp. 950–954, Macmillan, London, UK, 2003. View at Google Scholar
  32. L. Emy Dorfman, J. C. Leite, R. Giugliani, and M. Riegel, “Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances,” Jornal de Pediatria, vol. 91, no. 1, pp. 59–67, 2015. View at Publisher · View at Google Scholar
  33. L. E. L. M. Vissers and P. Stankiewicz, “Microdeletion and microduplication syndromes,” Methods in Molecular Biology, vol. 838, pp. 29–75, 2012. View at Publisher · View at Google Scholar · View at Scopus
  34. P. Agergaard, C. Olesen, J. R. Østergaard, M. Christiansen, and K. M. Sørensen, “The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population-based study,” The American Journal of Medical Genetics Part A, vol. 158, no. 3, pp. 498–508, 2012. View at Publisher · View at Google Scholar · View at Scopus
  35. A. M. Maillard, A. Ruef, F. Pizzagalli et al., “The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity,” Molecular Psychiatry, vol. 20, no. 1, pp. 140–147, 2014. View at Publisher · View at Google Scholar
  36. N. Ghebranious, P. F. Giampietro, F. P. Wesbrook, and S. H. Rezkalla, “A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation,” American Journal of Medical Genetics: Part A, vol. 143, no. 13, pp. 1462–1471, 2007. View at Publisher · View at Google Scholar · View at Scopus
  37. S. Puvabanditsin, M. S. Nagar, M. Joshi, G. Lambert, E. Garrow, and E. Brandsma, “Microdeletion of 16p11.2 associated with endocardial fibroelastosis,” American Journal of Medical Genetics, Part A, vol. 152, no. 9, pp. 2383–2386, 2010. View at Publisher · View at Google Scholar · View at Scopus
  38. A. A. Richards, L. J. Santos, H. A. Nichols et al., “Cryptic chromosomal abnormalities identified in children with congenital heart disease,” Pediatric Research, vol. 64, no. 4, pp. 358–363, 2008. View at Publisher · View at Google Scholar · View at Scopus
  39. B. Thienpont, L. Mertens, T. de Ravel et al., “Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients,” European Heart Journal, vol. 28, no. 22, pp. 2778–2784, 2007. View at Publisher · View at Google Scholar · View at Scopus
  40. B. Thienpont, L. Zhang, A. V. Postma et al., “Haploinsufficiency of TAB2 causes congenital heart defects in humans,” American Journal of Human Genetics, vol. 86, no. 6, pp. 839–849, 2010. View at Publisher · View at Google Scholar · View at Scopus
  41. R. Soemedi, I. J. Wilson, J. Bentham et al., “Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease,” The American Journal of Human Genetics, vol. 91, no. 3, pp. 489–501, 2012. View at Publisher · View at Google Scholar · View at Scopus
  42. H. B. Hightower, N. H. Robin, F. M. Mikhail, and N. Ambalavanan, “Array comparative genomic hybridisation testing in CHD,” Cardiology in the Young, vol. 8, 18 pages, 2014. View at Publisher · View at Google Scholar
  43. S. Girirajan, L. A. Rosenfeld, B. P. Coe et al., “Phenotypic heterogeneity of genomic disorders and rare copy-number variants,” The New England Journal of Medicine, vol. 367, no. 14, pp. 1321–1331, 2012. View at Publisher · View at Google Scholar
  44. J. R. Priest, S. Girirajan, T. H. Vu, A. Olson, E. E. Eichler, and M. A. Portman, “Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects,” American Journal of Medical Genetics, Part A, vol. 158, no. 6, pp. 1279–1284, 2012. View at Publisher · View at Google Scholar · View at Scopus
  45. P. M. Boone, I. M. Campbell, B. C. Baggett et al., “Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles,” Genome Research, vol. 23, no. 9, pp. 1383–1394, 2013. View at Publisher · View at Google Scholar · View at Scopus
  46. S. Girirajan and E. E. Eichler, “Phenotypic variability and genetic susceptibility to genomic disorders,” Human Molecular Genetics, vol. 19, no. 2, pp. R176–R187, 2010. View at Publisher · View at Google Scholar · View at Scopus
  47. M. F. Arlt, A. C. Ozdemir, S. R. Birkeland, R. H. Lyons Jr., T. W. Glover, and T. E. Wilson, “Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing,” Genetics, vol. 187, no. 3, pp. 675–683, 2011. View at Publisher · View at Google Scholar · View at Scopus
  48. G. M. Cooper, B. P. Coe, S. Girirajan et al., “A copy number variation morbidity map of developmental delay,” Nature Genetics, vol. 43, no. 9, pp. 838–846, 2011. View at Publisher · View at Google Scholar · View at Scopus
  49. S. Girirajan, C. D. Campbell, and E. E. Eichler, “Human copy number variation and complex genetic disease,” Annual Review of Genetics, vol. 45, pp. 203–226, 2011. View at Publisher · View at Google Scholar · View at Scopus
  50. S. Girirajan, “Genomic disorders: complexity at multiple levels,” Genome Medicine, vol. 5, no. 5, article 43, 2013. View at Publisher · View at Google Scholar · View at Scopus
  51. S. Girirajan and E. E. Eichler, “Phenotypic variability and genetic susceptibility to genomic disorders,” Human Molecular Genetics, vol. 19, no. R2, pp. R176–R187, 2010. View at Publisher · View at Google Scholar · View at Scopus
  52. J. Breckpot, B. Thienpont, Y. Arens et al., “Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects,” Cytogenetic and Genome Research, vol. 135, no. 3-4, pp. 251–259, 2011. View at Publisher · View at Google Scholar · View at Scopus
  53. G. R. Abecasis, A. Auton, L. D. Brooks et al., “1000 Genomes Project Consortium: an integrated map of genetic variation from 1,092 human genomes,” Nature, vol. 491, pp. 56–65, 2012. View at Google Scholar
  54. S. Bale, M. Devisscher, W. V. Criekinge et al., “MutaDATABASE: a centralized and standardized DNA variation database,” Nature Biotechnology, vol. 29, no. 2, pp. 117–118, 2011. View at Publisher · View at Google Scholar · View at Scopus
  55. E. Palmer, H. Speirs, P. J. Taylor et al., “Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability,” American Journal of Medical Genetics Part A, vol. 164, no. 2, pp. 377–385, 2014. View at Publisher · View at Google Scholar · View at Scopus
  56. T. Liehr, Benign & Pathological Chromosomal Imbalances: Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling, Elsevier, London, UK, 2014.
  57. S. C. Greenway, A. C. Pereira, J. C. Lin et al., “De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot,” Nature Genetics, vol. 41, no. 8, pp. 931–935, 2009. View at Publisher · View at Google Scholar · View at Scopus
  58. X. Gong, X. Wu, X. Ma et al., “Microdeletion and microduplication analysis of Chinese conotruncal defects patients with targeted array comparative genomic hybridization,” PLoS ONE, vol. 8, no. 10, Article ID e76314, 2013. View at Publisher · View at Google Scholar · View at Scopus
  59. World Health Organization, “Report 2014,” http://www.who.int/.
  60. M. Riegel, “Human molecular cytogenetics: from cells to nucleotides,” Genetics & Molecular Biology, vol. 37, supplement 1, pp. 194–209, 2014. View at Publisher · View at Google Scholar · View at Scopus