title: Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.
abstract: Van Hippel-Lindau disease (VHL) is an autosomal dominantly inherited disorder, characterised by the development of clear cell renal carcinomas, CNS hemangioblastomas, retinal angiomas, pancreatic tumors, pheochromocytomas and hepatic cysts. Recently a number of families with dominant familial pheochromocytoma as the only clinical manifestation have been reported to carry mutations in the HVL gene. We describe a family in which a novel VHL S68W mutation was segregating and carrier individuals manifested with variable penetrance of isolated pheochromocytomas. Investigation of this kindred confirmed that a mutation in the VHL gene could produce isolated pheochromocytomas as the only clinical feature and was variably penetrant.
authors.affiliation: Genetic Services of Western Australia, Princess Margaret Hospital, GPO Box D184, Perth 6000, Australia.
authors.forename: R
authors.initials: R
authors.lastname: Martin
authors.forename: A
authors.initials: A
authors.lastname: Hockey
authors.forename: I
authors.initials: I
authors.lastname: Walpole
authors.forename: J
authors.initials: J
authors.lastname: Goldblatt
mesh_terms: D016147:Genes, Tumor Suppressor / Q000235:genetics; D006801:Humans; D008025:Ligases; D009154:Mutation / Q000235:genetics*; D019683:Penetrance; D010673:Pheochromocytoma / Q000235:genetics*; 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