Variable penetrance of familial pheochromocytoma associated with the von Hippel Lindau gene mutation, S68W
✍ Scribed by Roger Martin; Athel Hockey; Ian Walpole; Jack Goldblatt
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 26 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
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.