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 and their sister (family 1) were found to carry the mutation c.292T>A in exon 1 of the VHL gene. The proband presented with hemangioblastoma at age 35, retinal angioma and pancreatic cysts or tumours at age 37, and renal cell carcinoma at age 39. The patient had positive VHL family history and their first sister also carried this germline mutation but was asympromatic. Patient's mother did not undergo genetic testing but had a hemangioblastoma at age 50 and a pancreatic cyst or tumour at age 62. Another one of the patient's sisters presented with hemangioblastoma (age 40), renal cell carcinoma (age 43), and pancreatic cysts or tumours (age 43). This patient died before diagnosis. The proband's brother also died before diagnosis and presented with hemangioblastoma and retinal angioma at age 27.This family was previously published in 29330336.

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 and their sister (family 1) were found to carry the mutation c.292T>A in exon 1 of the VHL gene. The proband presented with hemangioblastoma at age 35, retinal angioma and pancreatic cysts or tumours at age 37, and renal cell carcinoma at age 39. The patient had positive VHL family history and their first sister also carried this germline mutation but was asympromatic. Patient's mother did not undergo genetic testing but had a hemangioblastoma at age 50 and a pancreatic cyst or tumour at age 62. Another one of the patient's sisters presented with hemangioblastoma (age 40), renal cell carcinoma (age 43), and pancreatic cysts or tumours (age 43). This patient died before diagnosis. The proband's brother also died before diagnosis and presented with hemangioblastoma and retinal angioma at age 27.This family was previously published in 29330336.