title: A c.464T>a mutation in VHL gene in a Chinese family with VHL syndrome.
abstract: Von Hippel-Lindau (VHL) is a tumor suppressor that negatively regulates the production of angiogenic factors. Mutations in the VHL gene cause VHL syndrome, which is characterized by highly vascularized tumors. Here we report a c.464T>A mutation of the VHL gene in three patients with hemangioblastoma from a Chinese family. This mutation was not reported previously and was absent in the unaffected family members. The mutation is predicted to cause Val to Glu substitution at VHL protein residue 155 in a conserved region. Previous biochemical studies demonstrated that residue Val-155 was critical for VHL protein binding to chaperonin TRiC/CCT, an essential step for proper VHL protein folding. Our finding of naturally occurring VHL V155E mutation in patients with VHL syndrome supports the functional importance of Val-155 residue in VHL protein and illustrates the diversity of VHL gene defects underlying VHL syndrome.
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Lu
authors.forename: Jun
authors.initials: J
authors.lastname: Lu
authors.forename: Qiang
authors.initials: Q
authors.lastname: Liu
authors.forename: Jian
authors.initials: J
authors.lastname: Niu
authors.forename: Shi-Ming
authors.initials: SM
authors.lastname: Zhang
authors.forename: Qing-Yu
authors.initials: QY
authors.lastname: Wu
authors.forename: Xiao-Fei
authors.initials: XF
authors.lastname: Qi
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018396:Mucin-1 / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D018396:Mucin-1; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human