Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma.
Indian J Hum Genet
;
2013 July-Sept ;19 (3): 373-376
Article
in English
| IMSEAR
| ID: sea-156598
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Carcinoma, Renal Cell
/
Mutation, Missense
/
Von Hippel-Lindau Disease
Language:
English
Journal:
Indian J Hum Genet
Year:
2013
Type:
Article
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