Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subjects were evaluated. An 11 year old Korean male patient presented with nausea, vomiting and spinal and cerebellar hemangioblastomas (11Y), multiple pancreatic neuroendocrine tumors (20Y), and renal cysts (20Y). Genetic testing confirmed a missense mutation at c.232A>G of the VHL gene. Family history is unknown.

Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subjects were evaluated. An 11 year old Korean male patient presented with nausea, vomiting and spinal and cerebellar hemangioblastomas (11Y), multiple pancreatic neuroendocrine tumors (20Y), and renal cysts (20Y). Genetic testing confirmed a missense mutation at c.232A>G of the VHL gene. Family history is unknown.