The authors investigated the clinical characteristics and genetic profile of VHL disease in the Chinese population. 12 patients with CNS hemangioblastoma from seven Chinese families were admitted to the Department of Neurosurgery at the First Affiliated Hospital of Soochow University, between 1996 and 2010. Peripheral blood samples were obtained for genetic analysis. Direct sequencing and real-time quantitative PCR was carried out to screen for mutations in the VHL gene in the 12 patients and their 13 non-symptomatic relatives. R69Afs*?(c.204delG) mutation was detected in Family G, (noted as c.417del in the paper due to a difference in transcript). The proband from Family G is a male patient who presented with retinal capillary hemangioma at age 27. He was diagnosed with renal cell carcinoma at age 29 and multifocal hemangioblastoma at age 33. Proband's son is asymptomatic and not a carrier of the mutation.