Using polymerase chain reaction (PCR)-direct sequencing and universal primer quantitative fluorescent multiplex–PCR, mutations in VHL gene in 19 VHL disease families recruited from the Department of Urology, Peking University First Hospital in the period from 2009 to 2012 were examined. One proband (family 9) was found to carry the mutation c.343delC in exon 2 of the VHL gene. The proband presented with hemangioblastoma at age 26 and renal cell carcinoma and abnormality of the pancreas at age 36. The patient had negative VHL family history. This patient was previously published in 29330336.