188 individuals presenting with a single hemangioblastoma, no family history of VHL disease, and no evidence of retinal or abdonimal manigestations of the disease at the time of diagnosis, were investigated for mutations in the VHL gene. Patient B7, male, presented with a cerebellar hemangioblastoma at age 30. Genetic testing via direct sequencing on a DNA blood sample found a c.535G>A (p.Asp179Asn) mutation in their VHL gene (noted as c.748G>A in the paper due to an older VHL transcript build having been used for mapping). One first degree relative tested positive for this mutation, but showed no clinical features of VHL disease at 63 years of age.

188 individuals presenting with a single hemangioblastoma, no family history of VHL disease, and no evidence of retinal or abdonimal manigestations of the disease at the time of diagnosis, were investigated for mutations in the VHL gene. Patient B7, male, presented with a cerebellar hemangioblastoma at age 30. Genetic testing via direct sequencing on a DNA blood sample found a c.535G>A (p.Asp179Asn) mutation in their VHL gene (noted as c.748G>A in the paper due to an older VHL transcript build having been used for mapping). One first degree relative tested positive for this mutation, but showed no clinical features of VHL disease at 63 years of age.