Inherited Mutations

in the VHL Gene

The diagram above is of the VHL gene, with known inherited mutations, mostly as published by Chen F, Kishida T, Yao M, et al: Germ line mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Human Mutation (1995) 5:66-75.

The rectangles represent the three exons of the VHL gene. The two start signals are indicated by "AUG". The cross hatched area is where the GXEEX pentanucleotide repeat is found.

Arrows above the boxes indicate insertions; lines within the boxes are at deletion break-points.

As published in the VHL Family Forum, 4:3, September 1996. For permission to reprint, please contact the VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.