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Anemia
Volume 2012, Article ID 865170, 6 pages
http://dx.doi.org/10.1155/2012/865170
Research Article

A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

1Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands
2Department of Pediatrics and Child Health, University of Manitoba, 675 McDermot Avenue, Winnipeg MB, Canada R3E 0V9
3Department of Cardiac Sciences, St. Boniface General Hospital, 405 Tache Avenue, Winnipeg MB, Canada R2H 2A6
4Medical Diagnostic Center Amstelland, P.O. Box 8018, 1180 LA Amstelveen, The Netherlands
5Department of Pediatrics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands
6Department of Pediatric Oncology/Hematology, Erasmus MC, Sophia Children’s Hospital, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands
7Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, 6120 Executive Boulevard, 1Executive Plaza South, Room 7020, Rockville, MD 20852-7231, USA

Received 9 January 2012; Accepted 22 March 2012

Academic Editor: Henri J. van de Vrugt

Copyright © 2012 Yne de Vries 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. J. P. de Winter and H. Joenje, “The genetic and molecular basis of Fanconi anemia,” Mutation Research, vol. 668, no. 1-2, pp. 11–19, 2009. View at Publisher · View at Google Scholar · View at Scopus
  2. C. Stoepker, K. Hain, B. Schuster et al., “SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype,” Nature Genetics, vol. 43, no. 2, pp. 138–141, 2011. View at Publisher · View at Google Scholar · View at Scopus
  3. F. Vaz, H. Hanenberg, B. Schuster et al., “Mutation of the RAD51C gene in a Fanconi anemia-like disorder,” Nature Genetics, vol. 42, no. 5, pp. 406–409, 2010. View at Publisher · View at Google Scholar · View at Scopus
  4. M. Levitus, H. Joenje, and J. P. De Winter, “The Fanconi anemia pathway of genomic maintenance,” Cellular Oncology, vol. 28, no. 1-2, pp. 3–29, 2006. View at Google Scholar · View at Scopus
  5. P. S. Rosenberg, H. Tamary, and B. P. Alter, “How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel,” American Journal of Medical Genetics, Part A, vol. 155, no. 8, pp. 1877–1883, 2011. View at Publisher · View at Google Scholar · View at Scopus
  6. H. Tamary, R. Bar-Yam, L. Shalmon et al., “Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients,” British Journal of Haematology, vol. 111, no. 1, pp. 338–343, 2000. View at Publisher · View at Google Scholar · View at Scopus
  7. E. Callen, J. A. Casado, M. D. Tischkowitz et al., “A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain,” Blood, vol. 105, no. 5, pp. 1946–1949, 2005. View at Google Scholar
  8. A. J. Tipping, T. Pearson, N. V. Morgan et al., “Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa,” Proceedings of the National Academy of Sciences of the United States of America, vol. 98, no. 10, pp. 5734–5739, 2001. View at Publisher · View at Google Scholar · View at Scopus
  9. H. Yagasaki, T. Oda, D. Adachi et al., “Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population,” Human Mutation, vol. 21, no. 5, article 555, 2003. View at Google Scholar · View at Scopus
  10. N. V. Morgan, F. Essop, I. Demuth et al., “A common Fanconi anemia mutation in black populations of sub-Saharan Africa,” Blood, vol. 105, no. 9, pp. 3542–3544, 2005. View at Publisher · View at Google Scholar · View at Scopus
  11. P. C. Verlander, J. D. Lin, M. U. Udono et al., “Mutation analysis of the Fanconi anemia gene FACC,” American Journal of Human Genetics, vol. 54, no. 4, pp. 595–601, 1994. View at Google Scholar · View at Scopus
  12. P. C. Verlander, A. Kaporis, Q. Liu, Q. Zhang, U. Seligsohn, and A. D. Auerbach, “Carrier frequency of the IVS4 + 4 A → T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population,” Blood, vol. 86, no. 11, pp. 4034–4038, 1995. View at Google Scholar · View at Scopus
  13. M. Futaki, T. Yamashita, H. Yagasaki et al., “The IVS4 + 4A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients,” Blood, vol. 95, no. 4, pp. 1493–1498, 2000. View at Google Scholar · View at Scopus
  14. H. Joenje, “Fanconi anaemia complementation groups in Germany and the Netherlands,” Human Genetics, vol. 97, no. 3, pp. 280–282, 1996. View at Publisher · View at Google Scholar · View at Scopus
  15. G. J. Te Meerman and M. A. Van der Meulen, “Genomic sharing surrounding alleles identical by descent: effects of genetic drift and population growth,” Genetic Epidemiology, vol. 14, no. 6, pp. 1125–1130, 1997. View at Google Scholar
  16. H. Niimura, L. L. Bachinski, S. Sangwatanaroj et al., “Mutations in the gene for cardiac myosin-binding protein C and late- onset familial hypertrophic cardiomyopathy,” The New England Journal of Medicine, vol. 338, no. 18, pp. 1248–1257, 1998. View at Publisher · View at Google Scholar · View at Scopus
  17. W. Schroeder and H. T. Huebert, Mennonite Historical Atlas, Springfield, Winnipeg, Canada, 2nd edition, 1996.
  18. T. Yamashita, N. Wu, G. Kupfer et al., “Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity,” Blood, vol. 87, no. 10, pp. 4424–4432, 1996. View at Google Scholar · View at Scopus
  19. N. C. Orton, A. M. Innes, A. E. Chudley, and N. T. Bech-Hansen, “Unique disease heritage of the Dutch-German mennonite population,” American Journal of Medical Genetics, Part A, vol. 146, no. 8, pp. 1072–1087, 2008. View at Publisher · View at Google Scholar · View at Scopus
  20. M. Alders, R. Jongbloed, W. Deelen et al., “The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands,” European Heart Journal, vol. 24, no. 20, pp. 1848–1853, 2003. View at Publisher · View at Google Scholar · View at Scopus
  21. T. Imai, T. Yanase, M. R. Waterman, E. R. Simpson, and J. J. Pratt, “Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17α-hydroxylase deficiency,” Human Genetics, vol. 89, no. 1, pp. 95–96, 1992. View at Publisher · View at Google Scholar · View at Scopus