TITLE

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

AUTHOR(S)
Kumar, Pasupuleti Santhosh; Venkatesh, Katari; Srikanth, Lokanathan; Gurunadha, Potukuchi Venkata; Sarma, Krishna; Reddy, Akkamgari Ramprasad; Subramanian, Srinivasan; Phaneendra, Bobbidi Venkata
PUB. DATE
September 2013
SOURCE
Indian Journal of Human Genetics;Jul-Sep2013, Vol. 19 Issue 3, p373
SOURCE TYPE
Academic Journal
DOC. TYPE
Checklist
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.
ACCESSION #
91920300

 

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