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

  • Hiltrud Brauch
  • Takeshi Kishida
  • Damjan Glavac
  • Fan Chen
  • Friederike Pausch
  • Heinz Höfler
  • Farida Latif
  • Michael I. Lerman
  • Berton Zbar
  • Hartmut P. H. Neumann
Original Investigation

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.

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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Hiltrud Brauch
    • 1
  • Takeshi Kishida
    • 2
  • Damjan Glavac
    • 1
    • 3
  • Fan Chen
    • 4
  • Friederike Pausch
    • 1
  • Heinz Höfler
    • 1
  • Farida Latif
    • 2
  • Michael I. Lerman
    • 2
  • Berton Zbar
    • 2
  • Hartmut P. H. Neumann
    • 5
  1. 1.Institute of Pathology, Laboratory of Molecular Pathology, Technical University MunichTrogerstrasse 32Germany
  2. 2.Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research FacilityFrederickUSA
  3. 3.National Institute of ChemistrySlovenia
  4. 4.Program Resources, Inc./DynCorpNational Cancer Institute-Frederick Cancer Research and Development CenterFrederickUSA
  5. 5.Department of Medicine, Division of Nephrology and HypertensionAlbert Ludwig University FreiburgFreiburgGermany

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