The incidence of VHL has been determined as approximately 1 in 36,000 live births.5 Seventy-two percent of patients can be diagnosed with VHL gene sequence analysis; large exonic or whole gene deletions or duplications are responsible for the remaining 28%.6 The p.R161X mutation identified in the family in the present study is a nonsense mutation described previously in the literature.7 According to the phenotypic characteristics, VHL disease can be divided into 4 phenotypic groups based on the presence of pheochromocytoma or renal cell carcinoma (type 1, type 2A, type 2B, and type 2C). Here, VHL is linked to hereditary pheochromocytoma-paraganglioma.