From: A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C
Type VHL | Type of VHL gene germline mutation | Retinal HAB | CNS HAB | RCC | PHEO | Mechanisms for VHL mediated tumorigenesis |
---|---|---|---|---|---|---|
1 | Missense | + | + | + | - | Loss of function (i.e. HIF decreased) |
Microdeletions | ||||||
Insertions | ||||||
Splice site | ||||||
Nonsense | ||||||
Large deletions | ||||||
2A | Missense | + | + | - | + | Loss of function (HAB) (i.e. HIF decreased) |
Gain of function (PHEO) Fibronectin binding decreased | ||||||
2B | Missense | + | + | + | + | Loss of function (HAB + RCC) (i.e. HIF decreased) |
Gain of function (PHEO) Fibronectin binding decreased | ||||||
2C | Missense | - | - | - | + | Gain of function (PHEO) Fibronectin binding decreased |