Identification of a VHL gene mutation in a Chinese family with Von Hippel‑Lindau syndrome

Molecular Medicine Reports
Zhengwen HeBin Li

Abstract

Von Hippel‑Lindau (VHL) syndrome is an autosomal dominant neoplastic disorder. The VHL tumor suppressor (VHL) gene has previously been identified to represent the causative gene of VHL. Previous studies have demonstrated that >506 different mutations in VHL are associated with VHL syndrome. The aim of the present study was to determine the VHL gene mutation present in a VHL syndrome pedigree and to investigate the pathogenesis of the mutant protein. Briefly, a family suffering from VHL syndrome in a Chinese Han population was recruited, and a missense mutation (c.345 C>A: p.H115Q) was revealed to be present within the VHL gene in the proband. Furthermore, Sanger sequencing revealed two carriers of the mutation within the family. The results of the present study also demonstrated a mutation in VHL associated with the VHL syndrome phenotype, which may be of future therapeutic benefit for the diagnosis of VHL syndrome. These results may also be relevant to further studies aiming to investigate the molecular pathogenesis of VHL syndrome.

References

Apr 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·B R SeizingerJ Whaley
Nov 1, 1990·The Quarterly Journal of Medicine·E R MaherM A Ferguson-Smith
Apr 1, 1971·Proceedings of the National Academy of Sciences of the United States of America·A G Knudson
Aug 19, 1997·Proceedings of the National Academy of Sciences of the United States of America·J R GnarraW M Linehan
Sep 30, 1998·Proceedings of the National Academy of Sciences of the United States of America·O IliopoulosW G Kaelin
Aug 16, 2001·Proceedings of the National Academy of Sciences of the United States of America·F YuF S Lee
May 11, 2002·Science·Jung-Hyun MinNikola P Pavletich
Sep 8, 2004·Trends in Molecular Medicine·Robert E Barry, Wilhelm Krek
Jan 1, 2005·Hereditary Cancer in Clinical Practice·Frederik J HesCornelis Jm Lips
Mar 10, 2011·European Journal of Human Genetics : EJHG·Eamonn R MaherStéphane Richard
Mar 19, 2011·Applied Immunohistochemistry & Molecular Morphology : AIMM·Zhi YangXiongying Miao
May 4, 2012·Applied Immunohistochemistry & Molecular Morphology : AIMM·Miriam L EnriquezZhanyong Bing
May 2, 2013·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Dandan JiaHong Jiang
Nov 12, 2014·Molecular Medicine Reports·Lian Tao LiJun Nian Zheng
Oct 5, 2016·Cold Spring Harbor Protocols·Michael R Green, Joseph Sambrook
Feb 20, 2017·Experimental and Molecular Pathology·Claudia CorròMarkus Rechsteiner

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