Sequencing of Von Hippel-Lindau (VHL) Gene from Genomic DNA for Mutation Detection in Italian Patients

Genomic DNA from patients suspected to have VHL were analysed by direct sequencing of the VHL gene-coding region for mutation detection. Sequencing was performed on the extracted DNA following amplification by Polymerase Chain Reaction (PCR) with suitably designed primers. Genetic analysis revealed a single base substitution in exon 3 of each of the two patients causing the R161X (stop codon) being a de novo mutation and the R176W missense mutation, respectively. The genetic and familial studies indicated that the VHL disease is inherited as a dominant trait.