Of 16 patients presenting with clinical VHL features that underwent genetic testing, patient 1 presented with the c.203C>G mutation of the VHL gene (stated in the paper as c.416C>G which used the Latif sequence as reference). Peripheral blood lymphocytes were collected and products of the polymerase chain reaction performed on this sample were analyzed with single-stranded conformational polymorphism analysis (SSCP), PCR sequencing and Southern analysis. This missense mutation was confirmed using restriction fragment length polymorphism or allele-specific oligonucleotide analysis. This patient has a family history of multiple tumor types indicative of VHL disease but the family did not undergo genetic testing. This patient presented with a pheochromocytoma.