42 CNS hemangioblastoma samples were obtained from 31 patients, who were consecutively treated between 1993 and 1997 at the Department of Neurosurgery of the Freiburg University Medical Centre were analyzed for VHL mutations. One patient of 17 presenting with VHL germline mutations presented with this mutation. It was state din the paper (which used the Latif sequence as reference) as p.106insR (c.529insGCC). This which automaps to the updated NM_000551.3:c.322_324dupCGC. Single strand conformation polymorphism and southern blotting for variant identification in the DNA found in blood samples. The patient was established as having VHL disease by standard of Neumann at al., 1987. The patient presented with one cerebellum tumor.

36 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6 patients) were studied using comparative genomic hybridization (CGH) to detect genetic imbalances. Patient I with VHL-Associated hemangioblastoma was found with a germline insertion mutation (c.316insGCC) in the VHL gene. (stated as c.529insGCC in the paper which used the Latif sequence as reference) in the VHL gene. All patients have familial VHL.