[von Hippel-Lindau hereditary tumor syndrome. Mutational analysis may improve prognosis].
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.
Wiklund
L
L
Vuxenpsykiatriska kliniken, Mölndals sjukhus.
Nordling
M
M
Engwall
Y
Y
Martinsson
T
T
Szentgyörgyi
E
E
Wahlström
J
J
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*