Identification of a novel duplication mutation in the VHL gene in a large Chinese family with Von Hippel-Lindau (VHL) syndrome

Genet Mol Res. 2014 Dec 4;13(4):10177-83. doi: 10.4238/2014.December.4.12.

Abstract

Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina, renal cysts, clear cell renal cell carcinoma, and pheochromocytoma. VHL is caused by mutations in the VHL tumor suppressor gene. We attempted to detect mutation in the VHL gene in a 5-generation Chinese family with VHL. We identified a novel small duplication that altered the reading frame downstream and created a premature TGA stop signal, resulting in severely truncated pVHL30 (p.Gly114Serfs*50) and pVHL19 (p.Gly61Serfs*50). This change was predicted to be an elongin-binding domain deletion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Asian People / genetics*
  • Child
  • Child, Preschool
  • China
  • Codon, Nonsense*
  • Female
  • Frameshift Mutation
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics*
  • Young Adult
  • von Hippel-Lindau Disease / genetics*
  • von Hippel-Lindau Disease / pathology*

Substances

  • Codon, Nonsense
  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human