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

[von hippel-lindau disease]

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 .

Diseases
Validation

Diseases presenting "malignant tumors" symptom

adrenal incidentaloma

cholangiocarcinoma

coats disease

cowden syndrome

cushing syndrome

dedifferentiated liposarcoma

dentinogenesis imperfecta

esophageal carcinoma

focal myositis

junctional epidermolysis bullosa

liposarcoma

pleomorphic liposarcoma

von hippel-lindau disease

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