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

  • Authors:
    • Yulun Huang
    • Dai Zhou
    • Jiangang Liu
    • Peng Zhou
    • Xiangdong Li
    • Zhong Wang
  • View Affiliations

  • Published online on: October 4, 2011     https://doi.org/10.3892/ijmm.2011.808
  • Pages: 47-52
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Abstract

Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome caused by mutations or deletions within the VHL tumor-suppressor gene, but VHL germline mutations in the Chinese have rarely been studied. To investigate the genetic profile of VHL mutations in the Chinese population, we evaluated the clinical characteristics of seven Chinese families suffering from VHL disease and determined the particular germline mutations in their VHL genes. Direct sequencing and real-time quantitative PCR was carried out. Disease-associated genetic abnormalities were identified in all of the seven families examined. Two novel intragenic germline mutations (645 G insertion and 417 G deletion) were identified and are reported for the first time. Partial VHL gene deletions in exon 1 were found in two of the seven families. Three clinically asymptomatic mutation carriers were also identified. The spectrum of VHL gene abnormalities in our group is distinct from that observed in North America, Europe and Japan. These mutations are also different from those previously identified in other Chinese VHL patients. Future meta-analysis will provide greater perspective on the Chinese VHL genetic profile. VHL gene screening can play a key role in identifying asymptomatic patients who are carriers of VHL-predisposing genetic abnormalities.

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January 2012
Volume 29 Issue 1

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Huang Y, Zhou D, Liu J, Zhou P, Li X and Wang Z: Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease. Int J Mol Med 29: 47-52, 2012
APA
Huang, Y., Zhou, D., Liu, J., Zhou, P., Li, X., & Wang, Z. (2012). Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease. International Journal of Molecular Medicine, 29, 47-52. https://doi.org/10.3892/ijmm.2011.808
MLA
Huang, Y., Zhou, D., Liu, J., Zhou, P., Li, X., Wang, Z."Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease". International Journal of Molecular Medicine 29.1 (2012): 47-52.
Chicago
Huang, Y., Zhou, D., Liu, J., Zhou, P., Li, X., Wang, Z."Germline mutations of the VHL gene in seven Chinese families with von Hippel-Lindau disease". International Journal of Molecular Medicine 29, no. 1 (2012): 47-52. https://doi.org/10.3892/ijmm.2011.808