Von Hippel–Lindau Gene Mutation in Non‐Syndromic Familial Pheochromocytomas

Abstract: Approximately 50% of patients with non‐syndromic familial pheochromocytomas had germline von Hippel–Lindau (VHL) gene mutations, but no reports on the subject were available in China. A total of five unrelated Chinese families with non‐syndromic familial pheochromocytomas were screened for VHL gene mutation by polymerase chain reaction (PCR) and subsequent direct sequencing. Missense germline mutations of VHL gene were detected in four of the five families. Arg161Gln (695G‐A) mutation was found in two families, and the other two families had Leu163Phe (700C‐T) and Arg167Trp (712C‐T) mutation, respectively. In conclusion, VHL gene may have frequent mutation in Chinese patients with non‐syndromic familial pheochromocytomas.