title: Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier.
abstract: Von Hippel-Lindau disease is generally considered to be a condition with very high penetrance, and individuals who live beyond the age of 60 years without showing any features of the disease, despite undoubtedly carrying the gene defect, have not previously been clearly described. The case is presented of a 65-year-old woman, who had four siblings affected with von Hippel-Lindau disease and had six children, three of whom died young with complications of von Hippel-Lindau disease. Although she is an obligate gene carrier, she has not developed any significant manifestations of the disease despite careful screening for the neurological, retinal and renal complications.
authors.affiliation: Department of Medical Genetics, St. Mary's Hospital, Manchester, UK.
authors.forename: D R
authors.initials: DR
authors.lastname: Davies
authors.forename: A M
authors.initials: AM
authors.lastname: Norman
authors.forename: R W
authors.initials: RW
authors.lastname: Whitehouse
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
mesh_terms: D000368:Aged; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D006623:von Hippel-Lindau Disease / Q000235:genetics* / Q000503:physiopathology