title: Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma.
abstract: Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumors, especially cerebellar hemangioblastomas, retinal angiomas and clear-cell renal cell carcinomas (RCC). We have identified of VHL gene using immunohistochemistry in a patient who was diagnosed for RCC. In order to understand the involvement of mutation in the VHL gene exon 1 was amplified and sequenced (accession number: JX 401534). The sequence analysis revealed the presence of novel missense mutations c.194 C>T, c.239 G>A, c.278 G>A, c.319 C>G, c. 337 C > G leading to the following variations p.Ala 65 Val, p.Gly 80 Asp, p.Gly 93 Glu, p.Gln 107 Glu, p.Gln 113 Glu in the protein.
authors: Department of Biotechnology, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India.
authors: Pasupuleti Santhosh
authors: PS
authors: Kumar
authors: Katari
authors: K
authors: Venkatesh
authors: Lokanathan
authors: L
authors: Srikanth
authors: Potukuchi Venkata Gurunadha Krishna
authors: PV
authors: Sarma
authors: Akkamgari Ramprasad
authors: AR
authors: Reddy
authors: Srinivasan
authors: S
authors: Subramanian
authors: Bobbidi Venkata
authors: BV
authors: Phaneendra
keywords: Missense mutation; Von Hippel-Lindau disease; renal cell carcinomas