VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V

J Clin Endocrinol Metab. 2002 Nov;87(11):5241-6. doi: 10.1210/jc.2002-020651.

Abstract

Von Hippel-Lindau disease (VHL) is a multitumor syndrome that develops on the basis of germline mutations in the VHL tumor suppressor gene. Genotype-phenotype correlations have helped to stratify the disease into VHL type 1 (without pheochromocytoma) and VHL type 2A, 2B, and 2C (with pheochromocytoma). VHL2C is characterized by a pheochromocytoma-only phenotype. We report on the P81S germline mutation in a German VHL2C family with the previously identified L188V mutation. The concurrent P81S mutation was identified by novel screening approaches including denaturing HPLC and sequencing. We show the co-segregation of these two mutations with the disease and discuss their possible impact on pVHL function and phenotype.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis
  • Female
  • Germ-Line Mutation*
  • Germany
  • Humans
  • Ligases / chemistry
  • Ligases / genetics*
  • Ligases / physiology
  • Male
  • Molecular Sequence Data
  • Nucleic Acid Denaturation
  • Pedigree
  • Phenotype*
  • Polymerase Chain Reaction
  • Protein Structure, Secondary
  • Sequence Analysis, DNA
  • Structure-Activity Relationship
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Von Hippel-Lindau Tumor Suppressor Protein
  • von Hippel-Lindau Disease / genetics*

Substances

  • Tumor Suppressor Proteins
  • Ubiquitin-Protein Ligases
  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ligases
  • VHL protein, human