- Volume 16 Issue 5
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VHL Gene Mutation Analysis of a Chinese Family with Non-Syndromic Pheochromocytomas and Patients with Apparently Sporadic Pheochromocytoma
- Zhang, Bin (Department of Urology, Lanzhou General Hospital of Lanzhou Command) ;
- Qian, Jing (Department of Urology, Gansu Provincial People's Hospital) ;
- Chang, De-Hui (Department of Urology, Lanzhou General Hospital of Lanzhou Command) ;
- Wang, Yang-Min (Department of Urology, Lanzhou General Hospital of Lanzhou Command) ;
- Zhou, Da-Hai (Department of Urology, PLA 401 Hospital) ;
- Qiao, Gou-Mei (Department of Urology, Lanzhou General Hospital of Lanzhou Command)
- Published : 2015.03.18
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. Materials and 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
von Hippel-Lindau syndrome;gene;mutation;pheochromocytomas;familial;sporadic
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