Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation.

[von hippel-lindau disease]

Von Hippel-Lindau (VHL ) disease is an autosomal dominant syndrome caused by germline mutations in the synonymous VHL gene encoding a tumor suppressor . Affected individuals are susceptible to various benign and malignant tumors . Based on the phenotypes , VHL disease is classified as type 1 and type 2 . Here , we describe a Chinese family diagnosed as VHL disease type 2 , with different metabolic status of tumors on FDG PET-CT . Genetic analysis revealed a germline c .264 G > A point mutation , resulting in premature termination at codon 88 (p .W 88 X ). This pedigree represents a rare link between p .W 88 X nonsense mutation (genotype ) and VHL disease type 2 (phenotype ), which has not been previously described . This is also the first nonsense mutation to manifest as VHL disease type 2 in ethnic Chinese . We also reviewed the literature and provided an outline of mutations associated with VHL disease in China .