Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma |
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Authors: | Pasupuleti Santhosh Kumar Katari Venkatesh Lokanathan Srikanth Potukuchi Venkata Gurunadha Krishna Sarma Akkamgari Ramprasad Reddy Srinivasan Subramanian Bobbidi Venkata Phaneendra |
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Institution: | Department of Biotechnology, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India;1.Department of Urology, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India;2.Department of Pathology, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India |
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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. |
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Keywords: | Missense mutation renal cell carcinomas Von Hippel-Lindau disease |
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