title: Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.
abstract: BACKGROUND
  von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. To date, more than 500 VHL families have been reported worldwide. However, few information is available about VHL germline mutations in mainland Chinese families.
  
  
  OBJECTIVE
  To provide some preliminary information about the germline VHL mutations in mainland Chinese population.
  
  
  METHODS
  A total of 27 index patients suspected of having VHL disease from unrelated Chinese families were studied by using direct DNA sequencing analysis and universal primer quantitative fluorescent multiplex polymerase chain reaction.
  
  
  RESULTS
  The VHL germline mutations were detected in 26 (96%) probands. A total of 20 intragenic mutations (77%) were identified consisting of 12 missenses, 5 nonsenses, 2 micro-deletions and 1 novel intron mutation (IVS1-38C>T). Six large deletions (23%) were detected including four partial deletions and two complete deletions. Furthermore, a C>T substitution at nucleotide 470 (Pro86Leu) was observed in two unrelated Chinese families. Of note, two mutations (Asn78Ser and Ser80Ile) previously characterized as VHL type I mutations in Western VHL were associated with the type II Chinese family. In addition, a VHL germline mutation was also identified in a proband who did not fulfill the clinical diagnostic criteria for VHL disease.
  
  
  CONCLUSIONS
  The spectrum of VHL germline mutations in mainland Chinese population is similar to that observed in Western population, and Genetic testing can be powerful in diagnosis and clinical management of VHL disease.
authors.affiliation: Department of Urology, Renji Hospital, Shanghai Jiaotong University School of Medicine, 1630 Dong Fang Road, 200127, Shanghai, People's Republic of China.
authors.forename: Jin
authors.initials: J
authors.lastname: Zhang
authors.forename: Yiran
authors.initials: Y
authors.lastname: Huang
authors.forename: Jiahua
authors.initials: J
authors.lastname: Pan
authors.forename: Dongming
authors.initials: D
authors.lastname: Liu
authors.forename: Lixin
authors.initials: L
authors.lastname: Zhou
authors.forename: Wei
authors.initials: W
authors.lastname: Xue
authors.forename: Qi
authors.initials: Q
authors.lastname: Chen
authors.forename: Baijun
authors.initials: B
authors.lastname: Dong
authors.forename: Hanqing
authors.initials: H
authors.lastname: Xuan
mesh_terms: D019943:Amino Acid Substitution; D044466:Asian People / Q000706:statistics & numerical data*; D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics; D005091:Exons; D005190:Family; D005260:Female; D005784:Gene Amplification; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000453:epidemiology / Q000235:genetics*
chemical_list: D004247:DNA; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human