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Disease Markers
Volume 2014 (2014), Article ID 836082, 8 pages
http://dx.doi.org/10.1155/2014/836082
Research Article

Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

1Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901, MG, Brazil
2GENE-Núcleo de Genética Médica, Avenida Afonso Pena 3111, 9th Floor, Belo Horizonte 30130-909, MG, Brazil
3Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo 05508-900, SP, Brazil
4Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA 99207, USA
5Paw Print Genetics, Genetic Veterinary Sciences, Inc., Spokane, WA 99202, USA

Received 30 December 2013; Accepted 11 February 2014; Published 15 April 2014

Academic Editor: Mariann Harangi

Copyright © 2014 Pricila da Silva Cunha 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. H. A. Heilstedt, B. C. Ballif, L. A. Howard, C. D. Kashork, and L. G. Shaffer, “Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality,” Clinical Genetics, vol. 64, no. 4, pp. 310–316, 2003. View at Publisher · View at Google Scholar · View at Scopus
  2. M. Gajecka, K. L. Mackay, and L. G. Shaffer, “Monosomy 1p36 deletion syndrome,” American Journal of Medical Genetics C: Seminars in Medical Genetics, vol. 145, no. 4, pp. 346–356, 2007. View at Publisher · View at Google Scholar · View at Scopus
  3. J. A. Rosenfeld, J. A. Crolla, S. Tomkins et al., “Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions,” American Journal of Medical Genetics A, vol. 152, no. 8, pp. 1951–1959, 2010. View at Publisher · View at Google Scholar · View at Scopus
  4. B. C. Ballif, W. Yu, C. A. Shaw, C. D. Kashork, and L. G. Shaffer, “Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions,” Human Molecular Genetics, vol. 12, no. 17, pp. 2153–2165, 2003. View at Publisher · View at Google Scholar · View at Scopus
  5. H. A. Heilstedt, B. C. Ballif, L. A. Howard et al., “Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome,” The American Journal of Human Genetics, vol. 72, no. 5, pp. 1200–1212, 2003. View at Publisher · View at Google Scholar · View at Scopus
  6. W. Yu, B. C. Ballif, C. D. Kashork et al., “Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions,” Human Molecular Genetics, vol. 12, no. 17, pp. 2145–2152, 2003. View at Publisher · View at Google Scholar · View at Scopus
  7. B. C. Ballif, S. G. Sulpizio, R. M. Lloyd et al., “The clinical utility of enhanced subtelomeric coverage in array CGH,” American Journal of Medical Genetics A, vol. 143, no. 16, pp. 1850–1857, 2007. View at Publisher · View at Google Scholar · View at Scopus
  8. C. S. D'Angelo, I. Kohl, M. C. Varela et al., “Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia,” American Journal of Medical Genetics A, vol. 152, no. 1, pp. 102–110, 2010. View at Publisher · View at Google Scholar · View at Scopus
  9. K. L. Jones, Smith's Recognizable Patterns of Human Malformation, WB Saunders, Philadelphia, Pa, USA, 6th edition, 2006.
  10. A. Battaglia, “Del 1p36 syndrome: a newly emerging clinical entity,” Brain & Development, vol. 27, no. 5, pp. 358–361, 2005. View at Publisher · View at Google Scholar · View at Scopus
  11. M. Descartes, F. M. Mikhail, J. C. Franklin, T. M. McGrath, and M. Bebin, “Monosomy 1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia,” Pediatric Neurology, vol. 45, no. 4, pp. 274–278, 2011. View at Publisher · View at Google Scholar · View at Scopus
  12. K. Giannikou, H. Fryssira, V. Oikonomakis et al., “Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the “extended” phenotype,” Gene, vol. 506, no. 2, pp. 360–368, 2012. View at Publisher · View at Google Scholar
  13. R. Weksberg, S. Hughes, L. Moldovan, A. S. Bassett, E. W. Chow, and J. A. Squire, “A method for accurate detection of genomic microdeletions using real-time quantitative PCR,” BMC Genomics, vol. 6, article 180, 2005. View at Publisher · View at Google Scholar · View at Scopus
  14. Y.-F. Chen, P.-L. Kou, S.-J. Tsai et al., “Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: application to the development of quantitative real-time PCR assay for clinical diagnosis,” Genomics, vol. 87, no. 2, pp. 290–297, 2006. View at Publisher · View at Google Scholar · View at Scopus
  15. C. Howald, G. Merla, M. C. Digilio et al., “Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions,” Journal of Medical Genetics, vol. 43, no. 3, pp. 266–273, 2006. View at Publisher · View at Google Scholar · View at Scopus
  16. C. Schubert and F. Laccone, “Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR,” International Journal of Molecular Medicine, vol. 18, no. 5, pp. 799–806, 2006. View at Google Scholar · View at Scopus
  17. S. Hughes, R. Weksberg, L. Moldovan, and J. A. Squire, “Use of quantitative PCR for the detection of genomic microdeletions or microduplications,” in PCR: Methods Express, pp. 49–62, Scion Publishing, Bloxham, UK, 1st edition, 2007. View at Google Scholar
  18. M. Frigerio, E. Passeri, T. de Filippis et al., “SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case,” BMC Medical Genetics, vol. 12, article 61, 2011. View at Publisher · View at Google Scholar · View at Scopus
  19. B. C. Ballif, A. Theisen, J. Coppinger et al., “Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication,” Molecular Cytogenetics, vol. 1, article 8, 2008. View at Publisher · View at Google Scholar
  20. B. C. Ballif, A. Theisen, D. M. McDonald-McGinn et al., “Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2,” Clinical Genetics, vol. 74, no. 5, pp. 469–475, 2008. View at Publisher · View at Google Scholar · View at Scopus
  21. A. L. Duker, B. C. Ballif, E. V. Bawle et al., “Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome,” European Journal of Human Genetics, vol. 18, no. 11, pp. 1196–1201, 2010. View at Publisher · View at Google Scholar · View at Scopus
  22. P. Saugier-Veber, A. Goldenberg, V. Drouin-Garraud et al., “Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation,” European Journal of Human Genetics, vol. 14, no. 9, pp. 1009–1017, 2006. View at Publisher · View at Google Scholar · View at Scopus
  23. L. G. Shaffer and B. A. Bejjani, “Using microarray-based molecular cytogenetic methods to identify chromosome abnormalities,” Pediatric Annals, vol. 38, no. 8, pp. 440–447, 2009. View at Publisher · View at Google Scholar · View at Scopus
  24. F. Giraudeau, L. Taine, V. Biancalana et al., “Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation,” Journal of Medical Genetics, vol. 38, no. 2, pp. 121–125, 2001. View at Google Scholar · View at Scopus
  25. C. Colmenares, H. A. Heilstedt, L. G. Shaffer et al., “Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice,” Nature Genetics, vol. 30, no. 1, pp. 106–109, 2002. View at Publisher · View at Google Scholar · View at Scopus
  26. A. I. Hernandez, N. Blace, J. F. Crary et al., “Protein kinase Mζ synthesis from a brain mRNA encoding an independent protein kinase Cζ catalytic domain. Implications for the molecular mechanism of memory,” The Journal of Biological Chemistry, vol. 278, no. 41, pp. 40305–40316, 2003. View at Publisher · View at Google Scholar · View at Scopus
  27. S. K. Shapira, C. McCaskill, H. Northrup et al., “Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome,” The American Journal of Human Genetics, vol. 61, no. 3, pp. 642–650, 1997. View at Google Scholar · View at Scopus
  28. L. G. Shaffer and H. A. Heilstedt, “Terminal deletion of 1p36,” The Lancet, vol. 358, article S9, 2001. View at Google Scholar · View at Scopus
  29. M. Gajecka, W. Yu, B. C. Ballif et al., “Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure,” European Journal of Human Genetics, vol. 13, no. 2, pp. 139–149, 2005. View at Publisher · View at Google Scholar · View at Scopus
  30. G. H. Vieira, J. D. Rodriguez, R. Boy et al., “Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome,” American Journal of Medical Genetics A, vol. 155, no. 5, pp. 988–992, 2011. View at Publisher · View at Google Scholar · View at Scopus
  31. M. Gajecka, S. C. Saitta, A. J. Gentles et al., “Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints,” American Journal of Medical Genetics A, vol. 152, no. 12, pp. 3074–3083, 2010. View at Publisher · View at Google Scholar · View at Scopus