GENOTYPE-PHENOTYPE CORRELATIONS IN VON-HIPPEL-LINDAU-DISEASE

A total of 146 intragenic germline mutations of the von Hippel-Lindau (VHL) gene are known and this figure is still increasing, To date, inf ormation for mutation-specific genetic counselling is insufficient, si nce either the total number of carriers is very low or clinical inform ation and investigation of symptomatic and asymptomatic is incomplete, This review summarizes all known mutations and includes the centres w hich performed the mutation analyses and may provide further informati on regarding specific mutations.