Abstract

Von Hippel-Lindau(VHL) disease is an autosomal dominant disease characterized by development of different tumors in diverse organs, including hemangioblastoma of the central nervous system, renal cell carcinoma, pheochromocytoma, and pancreatic tumors. The gene responsible for this disease, the VHL gene, was recently cloned and germline mutations of this gene identified in patients with VHL. Using polymerase chain reaction(PCR)-single strand conformation polymorphism(SSCP) analysis followed by DNA sequencing, we were able to identify germline mutations of the VHL gene in two unrelated Korean patients exhibiting typical clinical features of the VHL disease. The mutations identified were 2 base pair deletion at codon l79 in one patient, and a missense mutation at codon 190 in the other. Identification of the germline mutation in VHL gene aids in the accurate presymptomatic diagnosis of the at-risk family members of these patients.

• Keywords: von Hippel-Lindau disease, VHL gene, Germline mutatian