title: [von Hippel-Lindau hereditary tumor syndrome. Mutational analysis may improve prognosis].
abstract: The von Hippel-Lindau disease is a familial tumour syndrome characterised by greatly increased risks of developing central nervous haemangioma, renal cell carcinoma, retinal angioma and pheochromocytoma. Carriers have inherited a mutated tumour suppressor gene located at chromosome 3p25-26. The VHL gene has recently been cloned, three exons identified and the DNA sequence determined. A Swedish kindred comprising four generations and 41 individuals was investigated. Three living individuals with clinically verified VHL disease demonstrated a single base deletion of a cytosine residue at position 761 of the VHL gene, corresponding to amino acid 254. Among the remaining family members, two asymptomatic carriers of this VHL mutation were identified and offered a clinical follow-up programme for early detection and treatment of future VHL manifestations.
authors.affiliation: Vuxenpsykiatriska kliniken, Mölndals sjukhus.
authors.forename: L
authors.initials: L
authors.lastname: Wiklund
authors.forename: M
authors.initials: M
authors.lastname: Nordling
authors.forename: Y
authors.initials: Y
authors.lastname: Engwall
authors.forename: T
authors.initials: T
authors.lastname: Martinsson
authors.forename: E
authors.initials: E
authors.lastname: Szentgyörgyi
authors.forename: J
authors.initials: J
authors.lastname: Wahlström
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011379:Prognosis; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*