Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma.
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Date
2013-07
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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
Citation
Kumar Pasupuleti Santhosh, Venkatesh Katari, Srikanth Lokanathan , Sarma Potukuchi Venkata Gurunadha Krishna, Reddy Akkamgari Ramprasad, Subramanian Srinivasan, Phaneendra Bobbidi Venkata. Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma. Indian Journal of Human Genetics. 2013 July-Sept ;19 (3): 373-376.