title: Molecular genetic analysis and mutation screening of the VHL gene in a Japanese family with von Hippel-Lindau disease.
abstract: 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.
authors.affiliation: Department of Public Health, Kobe University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Wu
authors.forename: H
authors.initials: H
authors.lastname: Nishio
authors.forename: M J
authors.initials: MJ
authors.lastname: Lee
authors.forename: H
authors.initials: H
authors.lastname: Ayaki
authors.forename: A
authors.initials: A
authors.lastname: Hayashi
authors.forename: T
authors.initials: T
authors.lastname: Ooba
authors.forename: T
authors.initials: T
authors.lastname: Ogawa
authors.forename: K
authors.initials: K
authors.lastname: Sumino
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008025:Ligases; D008297:Male; D008967:Molecular Biology; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human