Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Gastrointestinal Medicine
Volume 2015, Article ID 140616, 5 pages
http://dx.doi.org/10.1155/2015/140616
Case Report

A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia

1Gastroenterology and Hepatology Unit, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, Sweden
2Department of Clinical Pathology and Clinical Genetics and Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, Sweden
3Division of Infectious Diseases, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, Sweden
4Department of Clinical Pathology and Genetics, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden

Received 29 October 2014; Revised 16 January 2015; Accepted 20 January 2015

Academic Editor: Yoshifumi Nakayama

Copyright © 2015 Joel Johansson 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. L. A. A. Brosens, D. Langeveld, W. A. van Hattem, F. M. Giardiello, and G. J. A. Offerhaus, “Juvenile polyposis syndrome,” World Journal of Gastroenterology, vol. 17, no. 44, pp. 4839–4844, 2011. View at Publisher · View at Google Scholar · View at Scopus
  2. J. L. Haidle and J. R. Howe, “Juvenile Polyposis syndrome,” in GeneReviews, R. A. Pagon, T. D. Bird, C. R. Dolan, K. Stephens, and M. P. Adam, Eds., University of Washington, Seattle, Wash, USA, 1993. View at Google Scholar
  3. M. O'Malley, L. LaGuardia, M. F. Kalady et al., “The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome,” Diseases of the Colon and Rectum, vol. 55, no. 8, pp. 886–892, 2012. View at Publisher · View at Google Scholar · View at Scopus
  4. K. Yamashita, M. Saito, M. Itoh et al., “Juvenile polyposis complicated with protein losing gastropathy,” Internal Medicine, vol. 48, no. 5, pp. 335–338, 2009. View at Publisher · View at Google Scholar · View at Scopus
  5. C. L. Shovlin, A. E. Guttmacher, E. Buscarini et al., “Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome),” American Journal of Medical Genetics, vol. 91, no. 1, pp. 66–67, 2000. View at Publisher · View at Google Scholar
  6. J. R. Howe, J. Shellnut, B. Wagner et al., “Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot,” The American Journal of Human Genetics, vol. 70, no. 5, pp. 1357–1362, 2002. View at Publisher · View at Google Scholar · View at Scopus
  7. E. Lucci-Cordisco, M. Risio, T. Venesio, and M. Genuardi, “The growing complexity of the intestinal polyposis syndromes,” The American Journal of Medical Genetics—Part A, vol. 161, no. 11, pp. 2777–2787, 2013. View at Publisher · View at Google Scholar · View at Scopus
  8. L. A. Boardman, “Heritable colorectal cancer syndromes: recognition and preventive management,” Gastroenterology Clinics of North America, vol. 31, no. 4, pp. 1107–1131, 2002. View at Publisher · View at Google Scholar · View at Scopus
  9. “Regional project rare diseases/Neuromuscular disorders in southeast Sweden,” http://www.lj.se/infopage.jsf?nodeId=42234.
  10. The EU Council, “Recommendation on an action in the field of rare diseases (2009/C 151/02),” Official Journal of the European Union, vol. 151, 2009, http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF. View at Google Scholar
  11. D. Langeveld, W. A. van Hattem, W. W. J. de Leng et al., “SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome,” Clinical Cancer Research, vol. 16, no. 16, pp. 4126–4134, 2010. View at Publisher · View at Google Scholar
  12. C. Gallione, A. S. Aylsworth, J. Beis et al., “Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome,” The American Journal of Medical Genetics, Part A, vol. 152, no. 2, pp. 333–339, 2010. View at Publisher · View at Google Scholar · View at Scopus