title: Germline mutations of the VHL gene in seven Chinese families with von             Hippel-Lindau disease.
abstract: Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome caused by mutations or deletions within the VHL tumor-suppressor gene, but VHL germline mutations in the Chinese have rarely been studied. To investigate the genetic profile of VHL mutations in the Chinese population, we evaluated the clinical characteristics of seven Chinese families suffering from VHL disease and determined the particular germline mutations in their VHL genes. Direct sequencing and real-time quantitative PCR was carried out. Disease-associated genetic abnormalities were identified in all of the seven families examined. Two novel intragenic germline mutations (645 G insertion and 417 G deletion) were identified and are reported for the first time. Partial VHL gene deletions in exon 1 were found in two of the seven families. Three clinically asymptomatic mutation carriers were also identified. The spectrum of VHL gene abnormalities in our group is distinct from that observed in North America, Europe and Japan. These mutations are also different from those previously identified in other Chinese VHL patients. Future meta-analysis will provide greater perspective on the Chinese VHL genetic profile. VHL gene screening can play a key role in identifying asymptomatic patients who are carriers of VHL-predisposing genetic abnormalities.
authors.affiliation: Department of Neurosurgery, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu Province, PR China.
authors.forename: Yulun
authors.initials: Y
authors.lastname: Huang
authors.forename: Dai
authors.initials: D
authors.lastname: Zhou
authors.forename: Jiangang
authors.initials: J
authors.lastname: Liu
authors.forename: Peng
authors.initials: P
authors.lastname: Zhou
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Li
authors.forename: Zhong
authors.initials: Z
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D060888:Real-Time Polymerase Chain Reaction; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human