Table of Contents Author Guidelines Submit a Manuscript
Genetics Research International
Volume 2013 (2013), Article ID 189196, 5 pages
http://dx.doi.org/10.1155/2013/189196
Research Article

Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation

1Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand
2Genetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand
3Clinical Genetics Group, Department of Paediatrics and Child Health, University of Otago, P.O. Box 56, Dunedin 9054, New Zealand
4School of Biological Sciences, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand

Received 31 March 2013; Revised 7 July 2013; Accepted 18 July 2013

Academic Editor: Lucia Migliore

Copyright © 2013 Clare Brookes 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. P. H. Neumann and O. D. Wiestler, “Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus,” Lancet, vol. 337, no. 8749, pp. 1052–1054, 1991. View at Publisher · View at Google Scholar · View at Scopus
  2. J. A. Butman, W. M. Linehan, and R. R. Lonser, “Neurologic manifestations of von Hippel-Lindau disease,” Journal of the American Medical Association, vol. 300, no. 11, pp. 1334–1342, 2008. View at Publisher · View at Google Scholar · View at Scopus
  3. K. L. Melmon and S. W. Rosen, “Lindau's disease: review of the literature and study of a large kindred,” The American Journal of Medicine, vol. 36, no. 4, pp. 595–617, 1964. View at Google Scholar · View at Scopus
  4. C. A. Friedrich, “Genotype-phenotype correlation in von Hippel-Lindau syndrome,” Human Molecular Genetics, vol. 10, no. 7, pp. 763–767, 2001. View at Google Scholar · View at Scopus
  5. F. Latif, K. Tory, J. Gnarra et al., “Identification of the von Hippel-Lindau disease tumor suppressor gene,” Science, vol. 260, no. 5112, pp. 1317–1320, 1993. View at Google Scholar · View at Scopus
  6. C. Blankenship, J. G. Naglich, J. M. Whaley, B. Seizinger, and N. Kley, “Alternate choice of initiation codon produces a biologically active product of the von Hippel Lindau gene with tumor suppressor activity,” Oncogene, vol. 18, no. 8, pp. 1529–1535, 1999. View at Google Scholar · View at Scopus
  7. M. Nordstrom-O'Brien, R. B. van der Luijt, E. van Rooijen et al., “Genetic analysis of von Hippel-Lindau disease,” Human Mutation, vol. 31, no. 5, pp. 521–537, 2010. View at Publisher · View at Google Scholar · View at Scopus
  8. F. Chen, T. Kishida, M. Yao et al., “Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype,” Human Mutation, vol. 5, no. 1, pp. 66–75, 1995. View at Publisher · View at Google Scholar · View at Scopus
  9. C. Gallou, D. Joly, A. Méjean et al., “Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC,” Human Mutation, vol. 13, no. 6, pp. 464–475, 1999. View at Google Scholar
  10. N. L. Rogers, S. A. Cole, H. C. Lan, and A. Crossa, “New saliva DNA collection method compared to buccal cell collection techniques for epidemiological studies,” American Journal of Human Biology, vol. 19, no. 3, pp. 319–326, 2007. View at Publisher · View at Google Scholar · View at Scopus
  11. K. M. Lonergan, O. Iliopoulos, M. Ohh et al., “Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2,” Molecular and Cellular Biology, vol. 18, no. 2, pp. 732–741, 1998. View at Google Scholar · View at Scopus
  12. M. Ohh, C. W. Park, M. Ivan et al., “Ubiquitination of hypoxia-inducible factor requires direct binding to the β-domain of the von Hippel—indau protein,” Nature Cell Biology, vol. 2, no. 7, pp. 423–427, 2000. View at Publisher · View at Google Scholar · View at Scopus
  13. P. Jaakkola, D. R. Mole, Y. M. Tian et al., “Targeting of HIF-α to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation,” Science, vol. 292, no. 5516, pp. 468–472, 2001. View at Google Scholar · View at Scopus
  14. J. H. Min, H. Yang, M. Ivan, F. Gertler, W. G. Kaelin Jr., and N. P. Pavietich, “Structure of an HIF-1α-pVHL complex: hydroxyproline recognition in signaling,” Science, vol. 296, no. 5574, pp. 1886–1889, 2002. View at Publisher · View at Google Scholar · View at Scopus
  15. S. Sikora and A. Godzik, “Combination of multiple alignment analysis and surface mapping paves a way for a detailed pathway reconstruction—the case of VHL (von Hippel-Lindau) protein and angiogenesis regulatory pathway,” Protein Science, vol. 13, no. 3, pp. 786–796, 2004. View at Publisher · View at Google Scholar · View at Scopus
  16. A. McNeill, E. Rattenberry, R. Barber, P. Killick, F. MacDonald, and E. R. Maher, “Genotype-phenotype correlations in VHL exon deletions,” American Journal of Medical Genetics A, vol. 149, no. 10, pp. 2147–2151, 2009. View at Publisher · View at Google Scholar · View at Scopus