1. Variable penetrance of familial pheochromocytoma associated with the von Hippel Lindau gene mutation, S68W
- Author
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Athel Hockey, Roger L. Martin, Jack Goldblatt, and Ian Walpole
- Subjects
Genetics ,Mutation ,endocrine system diseases ,Clinical manifestation ,Biology ,Von hippel lindau ,Gene mutation ,urologic and male genital diseases ,medicine.disease ,medicine.disease_cause ,Penetrance ,female genital diseases and pregnancy complications ,Pheochromocytoma ,Cancer research ,medicine ,Familial pheochromocytoma ,neoplasms ,Genetics (clinical) ,Clear cell - Abstract
Von 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 VHL 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. Hum Mutat 12:71, 1998. © 1998 Wiley-Liss, Inc.
- Published
- 1998
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