title: Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.
abstract: OBJECTIVE
  To observe the clinical and molecular characteristics in Chinese Von Hippel-Lindau (VHL) disease patients.
  
  
  METHODS
  Using polymerase chain reaction (PCR)-direct sequencing and universal primer quantitative fluorescent multiplex-PCR, we examined mutations in VHL gene in 19 VHL disease families recruited from the Department of Urology, Peking University First Hospital in the period from 2009 to 2012.
  
  
  RESULTS
  Of the 19 VHL disease families, VHL disease type I was identified in 14 families, type IIA in 1 family, and type IIB in 4 families. Mutation detection found missense point mutations in 7 families, nonsense point mutations in 3 families, small indels in 6 families, and large deletions in 3 families. Novel mutations were detected in 9 families (47.4%), in which 6 had no family history; previously reported mutations were found in 10 families, in which 3 had no family history.
  
  
  CONCLUSIONS
  The prevalence of novel mutations without family history was higher in this group of patients, presumably demonstrating the higher prevalence of de novo mutations in VHL gene in Chinese VHL disease patients.
authors.affiliation: Department of Urology, Peking University First Hospital, Institute of Urology, Peking University, National Urological Cancer Center, Beijing, People's Republic of China.
authors.forename: Xi
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Urology, Beijing Chaoyang Hospital, Capital Medical University, Beijing, People's Republic of China.
authors.forename: Ning
authors.initials: N
authors.lastname: Zhang
authors.affiliation: Department of Urology, Peking University First Hospital, Institute of Urology, Peking University, National Urological Cancer Center, Beijing, People's Republic of China; Department of Urology, Beijing Chaoyang Hospital, Capital Medical University, Beijing, People's Republic of China.
authors.forename: Xianghui
authors.initials: X
authors.lastname: Ning
authors.affiliation: Department of Urology, Peking University First Hospital, Institute of Urology, Peking University, National Urological Cancer Center, Beijing, People's Republic of China.
authors.forename: Teng
authors.initials: T
authors.lastname: Li
authors.affiliation: Department of Urology, Peking University First Hospital, Institute of Urology, Peking University, National Urological Cancer Center, Beijing, People's Republic of China.
authors.forename: Pengjie
authors.initials: P
authors.lastname: Wu
authors.affiliation: Department of Urology, Peking University First Hospital, Institute of Urology, Peking University, National Urological Cancer Center, Beijing, People's Republic of China.
authors.forename: Shuanghe
authors.initials: S
authors.lastname: Peng
authors.affiliation: Department of Urology, Peking University First Hospital, Institute of Urology, Peking University, National Urological Cancer Center, Beijing, People's Republic of China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Fan
authors.affiliation: Department of Central Laboratory, Peking University First Hospital, Beijing, People's Republic of China.
authors.forename: Dingfang
authors.initials: D
authors.lastname: Bu
authors.affiliation: Department of Urology, Peking University First Hospital, Institute of Urology, Peking University, National Urological Cancer Center, Beijing, People's Republic of China. Electronic address: gongkan2004@yahoo.com.cn.
authors.forename: Kan
authors.initials: K
authors.lastname: Gong
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D005260:Female; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; 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