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Case Reports in Pediatrics
Volume 2016, Article ID 6123150, 6 pages
http://dx.doi.org/10.1155/2016/6123150
Case Report

Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature

1School of Medicine, Queen’s University, Kingston, ON, Canada
2Department of Medical Imaging, University of Toronto, Toronto, ON, Canada
3Department of Pediatrics, Kingston General Hospital, Kingston, ON, Canada
4Department of Pathology and Laboratory Medicine, IWK Health Centre, Halifax, NS, Canada
5Department of Pathology, Dalhousie University, Halifax, NS, Canada

Received 30 June 2016; Accepted 28 August 2016

Academic Editor: Nur Arslan

Copyright © 2016 Sarah Abdullah 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. WHO, Obesity and Overweight, 2015, http://www.who.int/mediacentre/factsheets/fs311/en/.
  2. WHO, Childhood overweight and obesity, 2010, http://www.who.int/dietphysicalactivity/childhood/en.
  3. R. S. Strauss, “Childhood obesity and self-esteem,” Pediatrics, vol. 105, no. 1, article e15, 2000. View at Publisher · View at Google Scholar · View at Scopus
  4. H. H. M. Maes, M. C. Neale, and L. J. Eaves, “Genetic and environmental factors in relative body weight and human adiposity,” Behavior Genetics, vol. 27, no. 4, pp. 325–351, 1997. View at Publisher · View at Google Scholar · View at Scopus
  5. C. M. A. Haworth, S. Carnell, E. L. Meaburn, O. S. P. Davis, R. Plomin, and J. Wardle, “Increasing heritability of BMI and stronger associations with the FTO gene over childhood,” Obesity, vol. 16, no. 12, pp. 2663–2668, 2008. View at Publisher · View at Google Scholar · View at Scopus
  6. I. S. Farooqi and S. O'Rahilly, “Monogenic obesity in humans,” Annual Review of Medicine, vol. 56, pp. 443–458, 2005. View at Publisher · View at Google Scholar · View at Scopus
  7. I. S. Farooqi, G. S. H. Yeo, J. M. Keogh et al., “Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency,” The Journal of Clinical Investigation, vol. 106, no. 2, pp. 271–279, 2000. View at Publisher · View at Google Scholar · View at Scopus
  8. A. Hinney, A.-L. Volckmar, and N. Knoll, “Melanocortin-4 receptor in energy homeostasis and obesity pathogenesis,” Progress in Molecular Biology and Translational Science, vol. 114, pp. 147–191, 2013. View at Publisher · View at Google Scholar · View at Scopus
  9. V. Neocleous, C. Shammas, M. Phelan et al., “A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity,” Hormones, 2016. View at Publisher · View at Google Scholar
  10. C. E. Martinelli, J. M. Keogh, E. Greenfield Henning Jr. et al., “Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion,” The Journal of Clinical Endocrinology & Metabolism, vol. 96, no. 1, pp. E181–E188, 2011. View at Publisher · View at Google Scholar
  11. D. Huszar, C. A. Lynch, V. Fairchild-Huntress et al., “Targeted disruption of the melanocortin-4 receptor results in obesity in mice,” Cell, vol. 88, no. 1, pp. 131–141, 1997. View at Publisher · View at Google Scholar · View at Scopus
  12. I. S. Farooqi, J. M. Keogh, G. S. H. Yeo, E. J. Lank, T. Cheetham, and S. O'Rahilly, “Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene,” The New England Journal of Medicine, vol. 348, no. 12, pp. 1085–1095, 2003. View at Publisher · View at Google Scholar · View at Scopus
  13. J. D. Cody, X. T. Reveles, D. E. Hale, D. Lehman, H. Coon, and R. J. Leach, “Haplosufficiency of the melanocortin-4 receptor gene in individuals with deletions of 18q,” Human Genetics, vol. 105, no. 5, pp. 424–427, 1999. View at Publisher · View at Google Scholar · View at Scopus
  14. Johns Hopkins University, Online Mendelian Inheritance in Man, 2016, http://www.omim.org/.
  15. R. Lien, S. Flaisher-Grinberg, C. Cleary, M. Hejny, and H. Einat, “Behavioral effects of Bcl-2 deficiency: implications for affective disorders,” Pharmacological Reports, vol. 60, no. 4, pp. 490–498, 2008. View at Google Scholar · View at Scopus
  16. I. Feenstra, L. E. L. M. Vissers, M. Orsel et al., “Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map,” American Journal of Medical Genetics Part A, vol. 143, no. 16, pp. 1858–1867, 2007. View at Publisher · View at Google Scholar · View at Scopus
  17. F. Stutzmann, K. Tan, V. Vatin et al., “Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees,” Diabetes, vol. 57, no. 9, pp. 2511–2518, 2008. View at Publisher · View at Google Scholar · View at Scopus
  18. L. Turner, A. Gregory, L. Twells, D. Gregory, and D. J. Stavropoulos, “Deletion of the MC4R gene in a 9-year-old obese boy,” Childhood Obesity, vol. 11, no. 2, pp. 219–223, 2015. View at Publisher · View at Google Scholar · View at Scopus
  19. I. J. Hatoum, N. Stylopoulos, A. M. Vanhoose et al., “Melanocortin-4 receptor signaling is required for weight loss after gastric bypass surgery,” Journal of Clinical Endocrinology and Metabolism, vol. 97, no. 6, pp. E1023–E1031, 2012. View at Publisher · View at Google Scholar · View at Scopus
  20. B. G. Irani, Z. Xiang, M. C. Moore, R. J. Mandel, and C. Haskell-Luevano, “Voluntary exercise delays monogenetic obesity and overcomes reproductive dysfunction of the melanocortin-4 receptor knockout mouse,” Biochemical and Biophysical Research Communications, vol. 326, no. 3, pp. 638–644, 2005. View at Publisher · View at Google Scholar · View at Scopus
  21. I. R. Aslan, G. M. Campos, M. A. Calton, D. S. Evans, R. B. Merriman, and C. Vaisse, “Weight loss after Roux-en-y gastric bypass in obese patients heterozygous for MC4R mutations,” Obesity Surgery, vol. 21, no. 7, pp. 930–934, 2011. View at Publisher · View at Google Scholar · View at Scopus
  22. K. Y. Chen, R. Muniyappa, B. S. Abel et al., “RM-493, a melanocortin-4 receptor (MC4R) agonist, increases resting energy expenditure in obese individuals,” Journal of Clinical Endocrinology and Metabolism, vol. 100, no. 4, pp. 1639–1645, 2015. View at Publisher · View at Google Scholar · View at Scopus
  23. L. Fani, S. Bak, P. Delhanty, E. F. C. van Rossum, and E. L. T. van den Akker, “The melanocortin-4 receptor as target for obesity treatment: a systematic review of emerging pharmacological therapeutic options,” International Journal of Obesity, vol. 38, no. 2, pp. 163–169, 2014. View at Publisher · View at Google Scholar · View at Scopus