PMID- 10627136
OWN - NLM
STAT- MEDLINE
DCOM- 20000105
LR  - 20161124
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 1
DP  - 1998
TI  - Variable penetrance of familial pheochromocytoma associated with the von Hipple
      Lindau gene mutation, S68W. Mutations in brief no. 150. Online.
PG  - 71
AB  - 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.
FAU - Martin, R
AU  - Martin R
AD  - Genetic Services of Western Australia, Princess Margaret Hospital, GPO Box D184, 
      Perth 6000, Australia.
FAU - Hockey, A
AU  - Hockey A
FAU - Walpole, I
AU  - Walpole I
FAU - Goldblatt, J
AU  - Goldblatt J
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Proteins)
RN  - 0 (Tumor Suppressor Proteins)
RN  - EC 2.3.2.27 (Ubiquitin-Protein Ligases)
RN  - EC 2.3.2.27 (Von Hippel-Lindau Tumor Suppressor Protein)
RN  - EC 6.- (Ligases)
RN  - EC 6.3.2.- (VHL protein, human)
SB  - IM
MH  - Genes, Tumor Suppressor/genetics
MH  - Humans
MH  - *Ligases
MH  - Mutation/*genetics
MH  - *Penetrance
MH  - Pheochromocytoma/*genetics
MH  - Proteins/*genetics
MH  - *Tumor Suppressor Proteins
MH  - *Ubiquitin-Protein Ligases
MH  - Von Hippel-Lindau Tumor Suppressor Protein
MH  - von Hippel-Lindau Disease/*genetics
EDAT- 2000/01/08 09:00
MHDA- 2000/06/22 10:00
CRDT- 2000/01/08 09:00
PHST- 2000/01/08 09:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 2000/01/08 09:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU14>3.0.CO;2-A [pii]
AID - 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU16>3.0.CO;2-4 [doi]
PST - ppublish
SO  - Hum Mutat. 1998;12(1):71. doi:
      10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU16>3.0.CO;2-4.