title: Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation.
abstract: 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.264G>A point mutation, resulting in premature termination at codon 88 (p.W88X). This pedigree represents a rare link between p.W88X 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.
authors: Department of Endocrinology and Metabolism, Qingpu Branch of Zhongshan Hospital, Fudan University, Shanghai, People's Republic of China.
authors: Min
authors: M
authors: Zhang
authors: Jie
authors: J
authors: Wang
authors: Jingjing
authors: J
authors: Jiang
authors: Xiaohui
authors: X
authors: Zhan
authors: Yan
authors: Y
authors: Ling
authors: Zhiqiang
authors: Z
authors: Lu
authors: Jianming
authors: J
authors: Guo
authors: Xin
authors: X
authors: Gao
mesh_terms: D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D049268:Positron-Emission Tomography; D014057:Tomography, X-Ray Computed; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D051794:Von Hippel-Lindau Tumor Suppressor Protein