Human Genetics

, Volume 95, Issue 5, pp 551–556

Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect

Authors

  • Hiltrud Brauch
    • Institute of Pathology, Laboratory of Molecular Pathology, Technical University Munich
  • Takeshi Kishida
    • Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research Facility
  • Damjan Glavac
    • Institute of Pathology, Laboratory of Molecular Pathology, Technical University Munich
    • National Institute of Chemistry
  • Fan Chen
    • Program Resources, Inc./DynCorpNational Cancer Institute-Frederick Cancer Research and Development Center
  • Friederike Pausch
    • Institute of Pathology, Laboratory of Molecular Pathology, Technical University Munich
  • Heinz Höfler
    • Institute of Pathology, Laboratory of Molecular Pathology, Technical University Munich
  • Farida Latif
    • Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research Facility
  • Michael I. Lerman
    • Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research Facility
  • Berton Zbar
    • Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research Facility
  • Hartmut P. H. Neumann
    • Department of Medicine, Division of Nephrology and HypertensionAlbert Ludwig University Freiburg
Original Investigation

DOI: 10.1007/BF00223868

Cite this article as:
Brauch, H., Kishida, T., Glavac, D. et al. Hum Genet (1995) 95: 551. doi:10.1007/BF00223868

Abstract

We identified a germline missense mutation at nucleotide 505 (T to C) of the VHL tumor suppressor gene in 14, apparently unrelated, VHL type 2A families from the Black Forest region of Germany. This mutation was previously identified in two VHL 2A families living in Pennsylvania (USA). All affected individuals in the 16 families shared the same VHL haplotype indicating a founder effect. This missense mutation at codon 169 (Tyr to His) would probably cause an alteration in the structure of the putative VHL protein. The association of this distinct mutation with the pheochromocytoma phenotype in VHL may help to elucidate the genetic mechanism of carcinogenesis in this multi tumor cancer syndrome.

Copyright information

© Springer-Verlag 1995