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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.

SUBMITTER: Kumar PS 

PROVIDER: S-EPMC3841571 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature

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

Kumar Pasupuleti Santhosh PS   Venkatesh Katari K   Srikanth Lokanathan L   Sarma Potukuchi Venkata Gurunadha Krishna PV   Reddy Akkamgari Ramprasad AR   Subramanian Srinivasan S   Phaneendra Bobbidi Venkata BV  

Indian journal of human genetics 20130701 3


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). Th  ...[more]

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