title: VHL gene mutation analysis of a Chinese family with non- syndromic pheochromocytomas and patients with apparently sporadic pheochromocytoma.
abstract: OBJECTIVE
  The Von Hippel-Lindau syndrome (VHLD), an inherited neoplastic syndrome predisposing to central nervous system hemangioblastoma (CNS), pheochromocytoma (PCC), renal cell carcinoma(RCC), retinal hemangioma (RA) and renal cysts, is caused by mutations or deletions of the VHL tumor-suppressor gene. To assess VHL genotype-phenotype correlations with function of pVHL a gene mutation analysis of members in a Chinese family with non-syndromic PCCs and individuals with apparently sporadic pheochromocytoma (ASP) was performed.
  
  
  METHODS
  DNA samples of 20 members from the Chinese family with non-syndromic PCCs and 41 patients with ASP were analyzed by polymerase chain reaction and direct sequencing, confirmed by Taqman probe.
  
  
  RESULTS
  Three novel mutations (H125P, 623(?TTTGTtG) and R120T) were identified in the Chinese family and in 3 among 41 ASP patients. The mutations were all located in exon 2 of VHL gene encoding β-domain of pVHL. The tumor type in H125P carriers and R120T carriers was VHL type 2C. And 623(?TTTGTtG) carriers presented VHL type 2B or type 2C.
  
  
  CONCLUSIONS
  VHL gene abnormalities were identified in the Chinese family with non-syndromic PCCs and patients with APS, resulting in dysfunction of pVHL. H125P and R120T could be associated with VHL type 2C, while 623(?TTTGTtG) might be linked with VHL type 2B or type 2C. Not only is the genetic analysis helpful for early diagnosis and treatment of patients with VHLD, it is also benefitial for research into VHLD pathogenesis.
authors.affiliation: Department of Urology, Lanzhou General Hospital of Lanzhou Command, Lanzhou, Gansu, China E-mail : 2378914218@qq.com.
authors.forename: Bin
authors.initials: B
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Qian
authors.forename: De-Hui
authors.initials: DH
authors.lastname: Chang
authors.forename: Yang-Min
authors.initials: YM
authors.lastname: Wang
authors.forename: Da-Hai
authors.initials: DH
authors.lastname: Zhou
authors.forename: Gou-Mei
authors.initials: GM
authors.lastname: Qiao
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010673:Pheochromocytoma / Q000235:genetics*; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D018832:Molecular Chaperones; C108825:VBP1 protein, human