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: Pasupuleti Santhosh Kumar, Katari Venkatesh, Lokanathan Srikanth, Potukuchi Venkata Gurunadha Krishna Sarma, Akkamgari Ramprasad Reddy, Srinivasan Subramanian, Bobbidi Venkata Phaneendra
• Journal: Indian journal of human genetics (Indian J Hum Genet) Vol. 19 Issue 3 Pg. 373-6 (Jul 2013) ISSN: 0971-6866 [Print] India
• PMID: 24339559 (Publication Type: Case Reports)