Family history of von Hippel-Lindau disease was uncommon in Chinese patients: Suggesting the higher frequency of de novo mutations in VHL gene in these patients

Journal of Human Genetics

Volumn 57, Issue 4, 2012, Pages 238-243

  Wu, Pengjie ^a,b   Zhang, Ning ^c   Wang, Xi ^a,b   Ning, Xianghui ^a,b   Li, Teng ^a,b   Bu, Dingfang ^a   Gong, Kan ^a,b  

^a PEKING UNIVERSITY   (China)

^b NATIONAL UROLOGICAL CANCER CENTER   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Chinese; de novo mutation; mutation; renal cell carcinoma; von Hippel Lindau disease

Indexed keywords

3' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GERM LINE; HUMAN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; VHL GENE; VON HIPPEL LINDAU DISEASE;

3' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CODON, NONSENSE; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; GENOME, HUMAN; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MUTATION RATE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; VON HIPPEL-LINDAU DISEASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN; YOUNG ADULT;

EID: 84860272197     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.10     Document Type: Article

References (30)

1. Neumann, H. P. &Wiestler, O. D. Clustering of features of vonHippel-Lindau syndrome: Evidence for a complex genetic locus. Lancet 337, 1052-1054 (1991).
2. Maher, E. R., Yates, J. R., Harries, R., Benjamin, C., Harris, R., Moore, A. T. et al. Clinical features and natural history of von Hippel-Lindau disease. Q. J. Med. 77, 1151-1163 (1990). (Pubitemid 20379533)
3. Singh, A. D., Shields, C. L. & Shields, J. A. von Hippel-Lindau Disease. Surv. Ophthalmol. 46, 117-142 (2001). (Pubitemid 32913484)
4. Lonser, R. R., Glenn, G. M., Walther, M., Chew, E. Y., Libutti, S. K., Linehan, W. M. et al. von Hippel-Lindau disease. Lancet 361, 2059-2067 (2003). (Pubitemid 36695052)
5. Maher, E. R., Neumann, H. P. & Richard, S. von Hippel-Lindau disease: A clinical and scientific review. Eur. J. Hum. Genet. 19, 617-623 (2011).
6. Latif, F., Tory, K., Gnarra, J., Yao, M., Duh, F. M., Orcutt, M. L. et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260, 1317-1320 (1993). (Pubitemid 23231974)
7. Levy, A. P., Levy, N. S., Iliopoulos, O., Jiang, C., Kaplin, W. G. Jr. & Goldberg, M. A. Regulation of vascular endothelial growth factor by hypoxia and its modulation by the von Hippel-Lindau tumor suppressor gene. Kidney Int. 51, 575-578 (1997). (Pubitemid 27088179)
8. Kourembanas, S., Hannan, R. L. & Faller, D. V. Oxygen tension regulates the expression of the platelet-derived growth factor-B chain gene in human endothelial cells. J. Clin. Invest. 86, 670-674 (1990). (Pubitemid 20271905)
9. Krieg, M., Haas, R., Brauch, H., Acker, T., Flamme, I. & Plate, K H Up-regulation of hypoxia-inducible factors HIF-1alpha and HIF-2alpha under normoxic conditions in renal carcinoma cells by von Hippel-Lindau tumor suppressor gene loss of function. Oncogene 19, 5435-5443 (2000). (Pubitemid 32000910)
10. Kaelin, W. G. The von Hippel-Lindau Gene, Kidney Cancer, and Oxygen Sensing. J. Am. Soc. Nephrol. 14, 2703-2711 (2003).
11. Nordstrom-O'Brien, M., van der Luijt, R. B., van Rooijen, E., van den Ouweland, A. M., Majoor-Krakauer, D. F., Lolkema, M. P. et al. Genetic analysis of von Hippel-Lindau disease. Hum. Mutat. 31, 521-537 (2010).
12. Klein, B., Weirich, G. & Brauch, H. DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: Usefulness and limitations. Hum. Genet. 108, 376-384 (2001). (Pubitemid 32492441)
13. Stolle, C., Glenn, G., Zbar, B., Humphrey, J. S., Choyke, P., Walther, M. et al. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum. Mutat. 12, 417-423 (1998). (Pubitemid 28512618)
14. Cho, H. J., Ki, C. S. & Kim, J. W. Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. J. Korean. Med. Sci. 24, 77-83 (2009).
15. Rocha, J. C., Silva, R. L., Mendonca, B. B., Marui, S., Simpson, A. J. & Camargo, A. A. High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil. J. Med. Genet. 40, e31 (2003).
16. Cybulski, C., Krzystolik, K., Murgia, A., Gorski, B., Debniak, T., Jakubowska, A. et al. Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: Disease presentation in patients with deletions of the entire VHL gene. J. Med. Genet. 39, E38 (2002).
17. Zhang, J., Huang, Y., Pan, J., Liu, D., Zhou, L., Xue, W. et al. Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families. J. Cancer. Res. Clin. Oncol. 134, 1211-1218 (2008).
18. Richards, F. M., Payne, S. J., Zbar, B., Affara, N. A., Ferguson-Smith, M. A. & Maher, E. R. Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. Hum. Mol. Genet. 4, 2139-2143 (1995).
19. Sgambati,M. T., Stolle, C., Choyke, P. L.,Walther,M.M., Zbar, B., Linehan, W. M. et al. Mosaicism in von Hippel-Lindau disease: Lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am. J. Hum. Genet. 66, 84-91 (2000). (Pubitemid 30481470)
20. Siu, W. K., Ma, R. C., Lam, C. W., Mak, C. M., Yuen, Y. P., Lo, F. M. et al. Molecular basis of von Hippel-Lindau syndrome in Chinese patients. Chin. Med. J. (Engl). 124, 237-241 (2011).
21. Zbar, B., Kishida, T., Chen, F., Schmidt, L., Maher, E. R., Richards, F. M. et al. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum. Mutat. 8, 348-357 (1996). (Pubitemid 26412151)
22. Tong, A. L., Zeng, Z. P., Li, H. Z., Yang, D., Lu, L., Li, M. et al. von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas. Ann. N. Y. Acad. Sci. 1073, 203-207 (2006). (Pubitemid 44912014)
23. Mao, X. C., Su, Z. P., Yu, W. Q., Zheng, W. M. & Zeng, Y. J. Familial and genetic researches on three Chinese families with von Hippel-Lindau disease. Neurol. Res. 31, 743-747 (2009).
24. Zhou, D. H., Wang, Y. M., Lan, T., Dong, Y. C., Zhang, B., Li, W. P. et al. [Mutation screening of VHL gene in a Chinese family with nonsyndromic pheochromocytoma]. Zhonghua. Yi. Xue. Yi. Chuan. Xue. Za. Zhi. 24, 365-368 (2007). (Pubitemid 47292166)
25. Zhou, J., Wang, J., Li, N., Zhang, X., Zhou, H., Zhang, R. et al. Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma. Pathol. Int. 60, 452-458 (2010).
26. Crossey, P. A., Richards, F. M., Foster, K., Green, J. S., Prowse, A., Latif, F. et al. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum. Mol. Genet. 3, 1303-1308 (1994).
27. Ong, K. R., Woodward, E. R., Killick, P., Lim, C., Macdonald, F. & Maher, E. R. Genotype-phenotype correlations in von Hippel-Lindau disease. Hum. Mutat. 28, 143-149 (2007). (Pubitemid 46233311)
28. Forman, J. R., Worth, C. L., Bickerton, G. R., Eisen, T. G. & Blundell, T. L. Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. Proteins 77, 84-96 (2009).
29. Lee, S., Nakamura, E., Yang, H., Wei, W., Linggi, M. S., Sajan, M. P. et al. Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: Developmental culling and cancer. Cancer Cell 8, 155-167 (2005). (Pubitemid 41132744)
30. Roe, J. S., Kim, H., Lee, S. M., Kim, S. T., Cho, E. J. & Youn, H. D. p53 stabilization and transactivation by a von Hippel-Lindau protein. Mol. Cell 22, 395-405 (2006).