GN 2.1.1 Clinical Correlations VHL and PKD

Question 1

What is the cause of VHL?

Answer 1

A mutation in the VHL gene which is a tumor suppressor gene.

Question 2

Mutations of VHL leads to what? Mechanism specific

Answer 2

Mutation in VHL leads to a loss of function. Without VHL, HIF1a can uncontrollably stimulate VEGF and VEGFR. This promotes angiogenesis and creation of vascular tumors.

Question 3

What is the inheritance pattern of VHL?

Answer 3

Autosomal dominant