Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease

International Journal of Molecular Medicine

Volumn 29, Issue 1, 2012, Pages 47-52

  Huang, Yulun ^a,b   Zhou, Dai ^a   Liu, Jiangang ^a   Zhou, Peng ^a   Li, Xiangdong ^a   Wang, Zhong ^a  

^a SOOCHOW UNIVERSITY   (China)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Germline mutation; Hemangioblastoma; Von Hippel Lindau disease

Indexed keywords

VON HIPPEL LINDAU PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; EUROPE; EXON; FEMALE; FOLLOW UP; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC SCREENING; HEMANGIOBLASTOMA; HETEROZYGOTE; HUMAN; JAPAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NORTH AMERICA; POPULATION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; VON HIPPEL LINDAU DISEASE;

ADOLESCENT; ADULT; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; PEDIGREE; REAL-TIME POLYMERASE CHAIN REACTION; VON HIPPEL-LINDAU DISEASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 84855176586     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2011.808     Document Type: Article

References (21)

1. Maher ER, Iselius L, Yates JR, et al.: Von Hippel-Lindau disease: a genetic study. J Med Genet 28: 443-447, 1991. (Pubitemid 21922636)
2. Neumann HP, Eggert HR, Scheremet R, et al.: Central nervous system lesions in von Hippel-Lindau syndrome. J Neurol Neurosurg Psychiatry 55: 898-901, 1992.
3. Maher ER, Yates JR, Harries R, et al.: Clinical features and natural history of von Hippel-Lindau disease. Q J Med 77: 1151-1163, 1990. (Pubitemid 20379533)
4. Huang YR, Zhang J, Wang JD and Fan XD: Genetic study of a large Chinese kindred with von Hippel-Lindau disease. Chin Med J (Engl) 117: 552-557, 2004. (Pubitemid 38579075)
5. Tong AL, Zeng ZP, Zhou YR, et al.: Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family. Chin Med Sci J 24: 197-201, 2009.
6. Zhang J, Huang Y, Pan J, 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.
7. Mao XC, Su ZP, Yu WQ, et al.: Familial and genetic researches on three Chinese families with von Hippel-Lindau disease. Neurol Res 31: 743-747, 2009.
8. Zhou J, Wang J, Li N, et al.: Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma. Pathol Int 60: 452-458, 2010.
9. Siu WK, Ma RC, Lam CW, et al.: Molecular basis of von Hippel- Lindau syndrome in Chinese patients. Chin Med J (Engl) 124: 237-241, 2011.
10. Neumann HP and Zbar B: Renal cysts, renal cancer and von Hippel-Lindau disease. Kidney Int 51: 16-26, 1997.
11. Latif F, Tory K, Gnarra J, et al.: Identification of the von Hippel- Lindau disease tumor suppressor gene. Science 260: 1317-1320, 1993. (Pubitemid 23231974)
12. Casarin A, Martella M, Polli R, et al.: Molecular characterization of large deletions in the von Hippel-Lindau (VHL) gene by quantitative real-time PCR: the hypothesis of an alu-mediated mechanism underlying VHL gene rearrangements. Mol Diagn Ther 10: 243-249, 2006. (Pubitemid 44223238)
13. Béroud C, Joly D, Gallou C, et al.: Software and database for the analysis of mutations in the VHL gene. Nucleic Acids Res 26: 256-258, 1998. (Pubitemid 28295283)
14. Gläsker S, Bender BU, Apel TW, et al.: The impact of molecular genetic analysis of the VHL gene in patients with hemangioblastomas of the central nervous system. J Neurol Neurosurg Psychiatry 67: 758-762, 1999.
15. Stolle C, Glenn G, Zbar B, et al.: Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat 12: 417-423, 1998. (Pubitemid 28512618)
16. Gijtenbeek JM, Jacobs B, Sprenger SH, et al.: Analysis of von Hippel-Lindau mutations with comparative genomic hybridization in sporadic and hereditary hemangioblastomas: possible genetic heterogeneity. J Neurosurg 97: 977-982, 2002. (Pubitemid 35222424)
17. Maher ER: von Hippel-Lindau disease. Curr Mol Med 4: 833-842, 2004.
18. Ciotti P, Garuti A, Gulli R, et al.: Germline mutations in the von Hippel-Lindau gene in Italian patients. Eur J Med Genet 52: 311-314, 2009.
19. Qiu Rao, Chen JY, Wang JD, et al.: Renal cell carcinoma in children and young adults: clinicopathological, immunohistochemical, and VHL gene analysis of 46 cases with follow-up. Int J Surg Pathol 19: 170-179, 2011.
20. Zbar B, Kishida T, Chen F, 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)
21. Cybulski C, Krzystolik K, Murgia 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.