Kobe Journal of Medical Sciences, 2000

MOLECULAR GENETIC ANALYSIS AND MUTATION SCREENING OF THE VHL GENE IN A JAPANESE FAMILY WITH VON HIPPEL-LINDAU DISEASE.

Yuan WO*, Hisahide NISHIO*, Myeong Jin LEE*, Hitoshi AYAKI*, Akifumi HAYASHI**, Takeshi OOBA**, Takayoshi OGAWA**, and Kimiaki SUMINO*

*Department of Public Health, Kobe University School of Medicine 
**Department of Urology, Himeji Red Cross Hospital, 5-30-1, Tatsuno-cho, Himeji 670-8540, Japan 

Kobe J. Med. Sci. 46, 147-153, August 2000

AB: Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited familial cancer syndrome which predisposes individuals to a variety of malignant and benign tumors. Its penetrance is almost 100% by 61-70 years of age. We have identified a germline mutation in the VHL gene of a Japanese male patient with a retinal hemangioma in the left eye, an intracranial hemangioblastoma, a left renal tumor and bilateral pheochromocytomas. Screening for the mutation was performed in all members of the patient's family at risk for VHL disease. The mutation identified in the patient was a missense mutation at codon 238 (CGG to CAG). The elder daughter, who did not show any clinical symptoms, was found to carry the same mutation. In order to detect and treat tumors in VHL patients at an earlier stage, it is necessary to identify and screen for the VHL gene mutation in all family members known at risk.