Endocrinol Metab > Volume 21(3); 2006 > Article
Journal of Korean Endocrine Society 2006;21(3):239-244.
DOI: https://doi.org/10.3803/jkes.2006.21.3.239    Published online June 1, 2006.
A Case of Type 1 von Hippel-Lindau (VHL) Disease associated with VHL Germline Mutation.
Jeong Hoon Seo, Jae Hong Yang, Pyoung Lak Choi, Yu Lee Kim, Young Sik Choi, Yo Han Park, Ji Ho Ko, Hio Chung Kang, IL Jin Kim, Jae Gahb Park
1Department of Internal Medicine, Kosin University College of Medicine, Korea.
2Department of Radiology, Kosin University College of Medicine, Korea.
3Korean Hereditary Tumor Registry, Cancer Research Institute, Seoul National University, Korea.
Von Hippel-Lindau (VHL) disease is an autosomal dominant neoplasia syndrome that result from a germline mutation in the VHL gene. Germline mutation in the VHL gene lead to the development of hemangioblastomas of the central nervous system and retina, cysts and clear cell carcinoma of the kidney, cyst adenomas of other organs, and pheochromocytoma. VHL is a tumor suppressor gene on the short arm of chromosome 3. VHL disease has been classified into two main clinical subtypes depending on the presence (type 2) or absence (type 1) of pheochromocytoma. Type 2 has been subdivided into three categories depending on the presence (type 2B) or absence (type 2A) of renal cell carcinoma, with type 2C being a rare subtype in which pheochromocytoma is the sole manifestation of VHL disease. Recently we experienced a family with VHL type 1 who carry C to T (Q73X) transition in codon 217 nonsense germline mutation in exon 1 of VHL gene. The authors report this case with literature review.
Key Words: VHL germline mutation, Von Hippel-Lindau disease

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