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. 1995 May;95(5):551-6.
doi: 10.1007/BF00223868.

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

H Brauch  1 , T Kishida, D Glavac, F Chen, F Pausch, H Höfler, F Latif, M I Lerman, B Zbar, H P Neumann
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Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect

H Brauch et al. Hum Genet. 1995 May.

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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References

    1. Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3 - PubMed
    1. Hum Genet. 1991 Jun;87(2):207-10 - PubMed
    1. Vasa. 1987;16(3):220-6 - PubMed
    1. Hum Mol Genet. 1992 May;1(2):131-3 - PubMed
    1. N Engl J Med. 1993 Nov 18;329(21):1531-8 - PubMed

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