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Familial Pheochromocytoma Due to Mutant von Hippel-Lindau Disease Gene

John J. Mulvihill, MD; Robert E. Ferrell, PhD; Sally E. Carty, MD; Samuel E. Tisherman, MD; Berton Zbar, MD
Arch Intern Med. 1997;157(12):1390-1391. doi:10.1001/archinte.1997.00440330134019.
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The subtitle of our last clinical report,1 which is now a 37-year follow-up of a large western Pennsylvania kindred with 16 members with pheochromocytoma,2 hinted that a mutation in the von Hippel-Lindau (VHL) disease gene may have been present. We so speculated because 3 relatives with pheochromocytoma and 3 without it had other manifestations of VHL disease. Using 2 different molecular methods, we have now demonstrated a germline mutation in the VHL gene on chromosome 3 in the family.

As reported elsewhere in detail,3 genomic DNA was amplified in our laboratory in Frederick, Md, using the polymerase chain reaction, with primers and conditions as previously published.4 The results of single-strand conformational polymorphism analysis indicated an abnormal conformer, and direct sequencing of the mutant conformer demonstrated a T to C transversion at nucleotide 547 of the VHL complementary DNA,4,5 resulting in a tyrosine to histidine missense


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