Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype.

ABSTRACT:

Purpose

von Hippel-Lindau (VHL) disease is a dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. This study was conducted to establish genotype-phenotype correlations between the positions of disease-causing missense mutations and the ocular phenotypes of VHL disease.

Methods

Participants with clinically defined VHL disease and documented germline missense mutations in the VHL gene were identified in a cross-sectional study (n=412). Statistical analysis was used to correlate the position of the missense mutation in either the alpha- or beta-domain of the VHL protein with the ocular disease phenotype.

Results

Missense mutations among study participants were located in 47 of the 213 possible codons in the VHL gene. Almost all mutation

SUBMITTER: Mettu P 

PROVIDER: S-EPMC2941163 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature