Novel germline mutations in Swedish von Hippel-Lindau disease patients

We have used a combination of different mutation detection systems in analyzing two Swedish families with von Hippel-Lindau disease (VHL). The methods employed were single-stranded conformation polymorphism (SSCP), heteroduplex analysis, and direct sequencing. The families were both shown to carry constitutional mutations in the VHL gene not reported earlier. Both were frameshift mutations (i.e. nt761delC and nt732insAA) predicted to give a premature stop codon. The correlation of mutation data to different clinical features of VHL is discussed.