Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma

Pasupuleti Santhosh Kumar, Katari Venkatesh, Lokanathan Srikanth, Potukuchi Venkata Gurunadha Krishna Sarma, Akkamgari Ramprasad Reddy, Srinivasan Subramanian, Bobbidi Venkata PhaneendraIndian Journal of Human Genetics 2013 19(3):373-376Von 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.

Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Pasupuleti Santhosh KumarKatari VenkateshLokanathan SrikanthPotukuchi Venkata Gurunadha Krishna SarmaAkkamgari Ramprasad ReddySrinivasan SubramanianBobbidi Venkata Phaneendra Source Type: research